# gwascat

dbdate: 2008-12-01
author: Yuan X
date: 2008-10-10
journal: Am J Hum Genet
link: http://www.ncbi.nlm.nih.gov/pubmed/18940312
trait: Liver enzyme levels
initial_samplesize: 7,751 European ancestry individuals
replication_samplesize: 1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals
region: 10q24.2
chrom: 10
reported_genes: CPN1, CHUK, ERLIN1
mapped_gene: CPN1 - TPM4P1
upstream_gene_id: 1369
downstream_gene_id: 644566
strongest_risk_snp: rs11597390
strongest_risk_allele: A
snps: rs11597390
snp_id_current: 11597390
context: Intergenic
pvalue_mlog: 7.698970004336018
ci_95: [0.025-0.053] U/L decrease
platform: Affymetrix and Illumina[up to 496,032]
cnv: N
study:
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.


dbdate: 2008-11-25
author: Grant SF
date: 2008-10-07
journal: Diabetes
study: Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
trait: Type 1 diabetes
initial_samplesize: 563 European ancestry cases, 1,146 European ancestry controls, 483 European ancestry trios
replication_samplesize: 3,303 European ancestry cases, 4,673 European ancestry controls
region: 1p22.3
chrom: 1
reported_genes: EDG7
mapped_gene: LPAR3
snp_gene_ids: 23566
strongest_risk_snp: rs1983853
snps: rs1983853
snp_id_current: 1983853
context: intron
pvalue_mlog: 5.698970004336018
ci_95: [1.11-1.29]
platform: Illumina[up to 1,000,000]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18840781?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2009-05-07
author: Lesch KP
date: 2008-10-07
journal: J Neural Transm
trait: Attention deficit hyperactivity disorder
initial_samplesize: 343 European ancestry cases, 250 European ancestry controls, 54 controls
region: 9q34.13
chrom: 9
reported_genes: C9orf98
mapped_gene: AK8
snp_gene_ids: 158067
strongest_risk_snp: rs11243897
snps: rs11243897
snp_id_current: 11243897
context: intron
pvalue_mlog: 7.221848749616355
platform: Affymetrix [504,219](pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18839057?ordinalpos=16&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

study:
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.


dbdate: 2008-12-09
author: Sonuga-Barke EJ
date: 2008-10-07
journal: Am J Med Genet B Neuropsychiatr Genet
trait: Attention deficit hyperactivity disorder symptoms (interaction)
initial_samplesize: 909 European ancestry trios
region: 21q21.1
chrom: 21
reported_genes: Intergenic
mapped_gene: PPIAP22 - SLC6A6P1
upstream_gene_id: 653214
downstream_gene_id: 54019
strongest_risk_snp: rs2825388
strongest_risk_allele: A
snps: rs2825388
snp_id_current: 2825388
context: Intergenic
pvalue_mlog: 5.096910013008055
ci_95: [NR] unit increase
platform: Perlegen[429,981]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18846501?ordinalpos=9&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

study:
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.


dbdate: 2008-12-09
author: Sonuga-Barke EJ
date: 2008-10-07
journal: Am J Med Genet B Neuropsychiatr Genet
trait: Conduct disorder (interaction)
initial_samplesize: 909 European ancestry trios
region: 2p21
chrom: 2
reported_genes: Intergenic
mapped_gene: HNRNPA1P57 - LDHAP3
upstream_gene_id: 101060039
downstream_gene_id: 442013
strongest_risk_snp: rs719593
strongest_risk_allele: T
snps: rs719593
snp_id_current: 719593
context: Intergenic
pvalue_mlog: 5.301029995663981
ci_95: [NR] unit decrease
platform: Perlegen [429,901)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18846501?ordinalpos=12&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Franke A
date: 2008-10-05
journal: Nat Genet
trait: Ulcerative colitis
initial_samplesize: 1,167 European ancestry cases, 777 European ancestry controls
replication_samplesize: 1,855 European ancestry cases, 3,091 European ancestry controls
region: 6p21.32
chrom: 6
reported_genes: HLA-DRA, BTNL2
mapped_gene: TRNAI25
snp_gene_ids: 100189401
strongest_risk_snp: rs9268877
strongest_risk_allele: T
snps: rs9268877
snp_id_current: 9268877
pvalue_mlog: 17.22184874961635
ci_95: [1.33-1.58]
platform: Affymetrix[355,262]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18836448?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

study:
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.


dbdate: 2008-11-25
author: Dehghan A
date: 2008-10-01
journal: Lancet
trait: Urate levels
initial_samplesize: 11,847 European ancestry individuals
replication_samplesize: 11,024 European ancestry individuals, 3,843 African American individuals
region: 4q22.1
chrom: 4
reported_genes: ABCG2
mapped_gene: ABCG2
snp_gene_ids: 9429
strongest_risk_snp: rs2231142
snps: rs2231142
snp_id_current: 2231142
context: missense
pvalue_mlog: 59.52287874528033
ci_95: [0.20-0.28] SD increase in serum uric acid level
platform: Affymetrix and Illumina[up to 530,683]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18834626?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

study:
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.


dbdate: 2008-12-09
author: Gretarsdottir S
date: 2008-10-01
journal: Ann Neurol
study: Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke.
trait: Stroke (ischemic)
initial_samplesize: 1,661 European ancestry cases, 10,815 European ancestry controls
replication_samplesize: 4,576 European ancestry cases, 19,343 European ancestry controls
region: 4q25
chrom: 4
mapped_gene: PITX2 - MIR297
upstream_gene_id: 5308
downstream_gene_id: 100126354
strongest_risk_snp: rs2200733
strongest_risk_allele: T
snps: rs2200733
snp_id_current: 2200733
context: Intergenic
pvalue_mlog: 9.698970004336017
ci_95: [1.17-1.35]
platform: Illumina[310,881]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18991354?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2010-01-13
author: Heid IM
date: 2008-10-01
journal: Circ Cardiovasc Genet
link: http://www.ncbi.nlm.nih.gov/pubmed/20031538
trait: HDL cholesterol
initial_samplesize: Up to 4,274 European ancestry individuals
replication_samplesize: Up to 15,873 European ancestry individuals
region: 16q13
chrom: 16
reported_genes: CETP
mapped_gene: HERPUD1 - CETP
upstream_gene_id: 9709
downstream_gene_id: 1071
strongest_risk_snp: rs9989419
strongest_risk_allele: A
snps: rs9989419
snp_id_current: 9989419
context: Intergenic
pvalue_mlog: 26.04575749056067
ci_95: [NR] mg/dl decrease
platform: Affymetrix [Up to 2,557,253] (imputed)
cnv: N
study:
Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.


dbdate: 2008-11-25
author: Mushiroda T
date: 2008-10-01
journal: J Med Genet
link: http://www.ncbi.nlm.nih.gov/pubmed/18835860
trait: Idiopathic pulmonary fibrosis
initial_samplesize: 159 Japanese ancestry cases, 934 Japanese ancestry controls
replication_samplesize: 83 Japanese ancestry cases, 535 Japanese ancestry controls
region: 5p15.33
chrom: 5
reported_genes: TERT
mapped_gene: TERT
snp_gene_ids: 7015
strongest_risk_snp: rs2736100
strongest_risk_allele: A
snps: rs2736100
snp_id_current: 2736100
context: intron
pvalue_mlog: 7.522878745280337
ci_95: [1.61-2.78]
platform: Illumina [214,508]
cnv: N
study:
A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis.


dbdate: 2008-11-25
author: Abraham R
date: 2008-09-29
journal: BMC Med Genomics
study: A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
trait: Alzheimer's disease
initial_samplesize: 1,082 European ancestry cases, 1,239 European ancestry controls
replication_samplesize: 1,400 controls
region: 4q32.1
chrom: 4
reported_genes: Intergenic
mapped_gene: LRAT
snp_gene_ids: 9227
strongest_risk_snp: rs727153
strongest_risk_allele: C
snps: rs727153
snp_id_current: 727153
context: intron
pvalue_mlog: 5.522878745280337
ci_95: [1.37-1.95]
platform: Illumina[561,494](pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18823527?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Miyagawa T
date: 2008-09-28
journal: Nat Genet
link: http://www.ncbi.nlm.nih.gov/pubmed/18820697
study: Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
trait: Narcolepsy
initial_samplesize: 222 Japanese ancestry cases, 389 Japanese ancestry controls
region: 22q13.33
chrom: 22
reported_genes: CPT1B
mapped_gene: CHKB;CPT1B;CHKB-CPT1B
snp_gene_ids: 1120;1375;386593
strongest_risk_snp: rs5770917
strongest_risk_allele: C
snps: rs5770917
snp_id_current: 5770917
context: nearGene-3;nearGene-5;intron
pvalue_mlog: 7.221848749616355
ci_95: [1.37-1.95]
platform: Affymetrix[249,133]
cnv: N
replication_samplesize:
274 East Asian ancestry cases, 499 East Asian ancestry controls, 388 European ancestry cases, 397 European ancestry controls, 86 African American cases, 98 African American controls


dbdate: 2008-11-25
author: Mick E
date: 2008-09-26
journal: Am J Med Genet B Neuropsychiatr Genet
trait: Attention deficit hyperactivity disorder
initial_samplesize: 105 European ancestry cases, 34 Hispanic cases, 26 African American cases, 22 Other ancestry cases
region: 22q13.31
chrom: 22
reported_genes: Intergenic
mapped_gene: LINC00898 - MIR3201
upstream_gene_id: 400932
downstream_gene_id: 100422916
strongest_risk_snp: rs9627183
strongest_risk_allele: C
snps: rs9627183
snp_id_current: 9627183
context: Intergenic
pvalue_mlog: 5.522878745280337
platform: Affymetrix[319,722]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18821564?ordinalpos=&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.SmartSearch&log$=citationsensor

study:
Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder.


dbdate: 2008-12-09
author: Burkhardt R
date: 2008-09-18
journal: Arterioscler Thromb Vasc Biol
link: http://www.ncbi.nlm.nih.gov/pubmed/18802019
trait: LDL cholesterol
initial_samplesize: 2,346 Micronesian ancestry individuals
region: 5q13.3
chrom: 5
reported_genes: HMGCR
mapped_gene: SUMO2P5 - HMGCR
upstream_gene_id: 100526738
downstream_gene_id: 3156
strongest_risk_snp: rs7703051
strongest_risk_allele: A
snps: rs7703051
snp_id_current: 7703051
context: Intergenic
pvalue_mlog: 8
ci_95: [NR] % s.d. increase
platform: Affymetrix [~500,000]
cnv: N
study:
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.


dbdate: 2008-11-25
author: Liu P
date: 2008-09-17
journal: J Natl Cancer Inst
study: Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
trait: Lung cancer
initial_samplesize: 194 European ancestry cases, 219 European ancestry controls
replication_samplesize: 3,878 cases, 4,831 controls
region: 15q25.1
chrom: 15
reported_genes: LOC123688, PSMA4, CHRNA3, CHRNA5, CHRNB4
mapped_gene: HYKK
snp_gene_ids: 123688
strongest_risk_snp: rs8034191
strongest_risk_allele: G
snps: rs8034191
snp_id_current: 8034191
context: intron
pvalue_mlog: 8
ci_95: [1.17-1.64]
platform: Affymetrix[up to 722,376]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18780872?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Kiemeney LA
date: 2008-09-14
journal: Nat Genet
study: Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
trait: Urinary bladder cancer
initial_samplesize: 1,803 European ancestry cases, 34,336 European ancestry controls
replication_samplesize: 2,165 European ancestry cases, 3,800 European ancestry controls
region: 8q24.21
chrom: 8
reported_genes: MYC, BC042052
mapped_gene: CASC8 - CASC11
upstream_gene_id: 727677
downstream_gene_id: 100270680
strongest_risk_snp: rs9642880
strongest_risk_allele: T
snps: rs9642880
snp_id_current: 9642880
context: Intergenic
pvalue_mlog: 11.04575749056067
ci_95: [1.15-1.29]
platform: Illumina[302,140]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18794855?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Raychaudhuri S
date: 2008-09-14
journal: Nat Genet
study: Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
trait: Rheumatoid arthritis
initial_samplesize: 3,393 European ancestry cases, 12,460 European ancestry controls
replication_samplesize: 3,929 European ancestry cases, 5,807 European ancestry controls
region: 1p36.32
chrom: 1
reported_genes: MMEL1,TNFRSF14
mapped_gene: MMEL1
snp_gene_ids: 79258
strongest_risk_snp: rs3890745
strongest_risk_allele: T
snps: rs3890745
snp_id_current: 3890745
context: intron
pvalue_mlog: 7
ci_95: [NR]
platform: Illumina[818,728]Affymetrix[~340,000](imputed)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18794853?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Liu YZ
date: 2008-09-08
journal: PLoS One
trait: Hip bone size
initial_samplesize: 501 European ancestry women, 499 European ancestry men
replication_samplesize: 1,216 European ancestry women
region: 2q33.1
chrom: 2
reported_genes: PLCL1
mapped_gene: PLCL1
snp_gene_ids: 5334
strongest_risk_snp: rs7595412
strongest_risk_allele: A
snps: rs7595412
snp_id_current: 7595412
context: intron
pvalue_mlog: 5.698970004336018
ci_95: [NR] cm2 increase in hip bone size on women
platform: Affymetrix[306,823]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18776929?ordinalpos=8&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

study:
Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study.


dbdate: 2008-11-25
author: Hazra A
date: 2008-09-07
journal: Nat Genet
study: Common variants of FUT2 are associated with plasma vitamin B12 levels.
trait: Vitamin B12 levels
initial_samplesize: 1,658 European ancestry women
replication_samplesize: 1,059 European ancestry women
region: 19q13.33
chrom: 19
reported_genes: FUT2
mapped_gene: FUT2
snp_gene_ids: 2524
strongest_risk_snp: rs492602
strongest_risk_allele: G
snps: rs492602
snp_id_current: 492602
context: cds-synon
pvalue_mlog: 16.30102999566398
ci_95: [0.07-0.11] pg/ml decrease
platform: Illumina[528,134]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18776911?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: McArdle PF
date: 2008-09-01
journal: Arthritis Rheum
trait: Uric acid levels
initial_samplesize: 408 Old Order Amish women, 460 Old Order Amish men
replication_samplesize: Framingham Heart Study (Sample size NR)
region: 4p16.1
chrom: 4
reported_genes: GLUT9
mapped_gene: SLC2A9
snp_gene_ids: 56606
strongest_risk_snp: rs16890979
snps: rs16890979
snp_id_current: 16890979
context: missense
pvalue_mlog: 11
ci_95: [0.32-0.56] mg/dl decrease in uric serum levels
platform: Affymetrix[361,034]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18759275?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

study:
Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.


dbdate: 2008-11-25
author: van den Oord EJ
date: 2008-09-01
journal: Arch Gen Psychiatry
trait: Neuroticism
initial_samplesize: 1,227 European ancestry individuals
replication_samplesize: 1,880 European ancestry individuals
region: 14q21.3
chrom: 14
reported_genes: MAMDC1
mapped_gene: MDGA2
snp_gene_ids: 161357
strongest_risk_snp: rs12883384
snps: rs12883384
snp_id_current: 12883384
context: intron
pvalue_mlog: 6.154901959985743
platform: Affymetrix[420,287]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18762592?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

study:
Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.


dbdate: 2008-11-25
author: Di Bernardo MC
date: 2008-08-31
journal: Nat Genet
trait: Chronic lymphocytic leukemia
initial_samplesize: 505 European ancestry cases, 1,438 European ancestry controls
replication_samplesize: 1,024 European ancestry cases, 1,677 European ancestry controls
region: 6p25.3
chrom: 6
reported_genes: IRF4
mapped_gene: IRF4
snp_gene_ids: 3662
strongest_risk_snp: rs872071
strongest_risk_allele: G
snps: rs872071
snp_id_current: 872071
context: ncRNA
pvalue_mlog: 19.69897000433602
ci_95: [1.41- 1.69]
platform: Illumina[345,665]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18758461?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.


dbdate: 2008-11-25
author: Kugathasan S
date: 2008-08-31
journal: Nat Genet
study: Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
trait: Inflammatory bowel disease
initial_samplesize: 1,011 European ancestry cases, 4,250 European ancestry controls
replication_samplesize: 1,922 European ancestry cases, 14,124 European ancestry controls
region: 20q13.33
chrom: 20
reported_genes: TNFRSF6B
mapped_gene: ZGPAT
snp_gene_ids: 84619
strongest_risk_snp: rs2315008
strongest_risk_allele: G
snps: rs2315008
snp_id_current: 2315008
context: intron
pvalue_mlog: 14.04575749056067
ci_95: [1.05-1.76]
platform: Illumina[NR]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18758464?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Weidinger S
date: 2008-08-22
journal: PLoS Genet
study: Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.
trait: IgE levels
initial_samplesize: 1,530 European ancesrty individuals
replication_samplesize: 9,769 European ancestry individuals
region: 1q23.2
chrom: 1
reported_genes: FCER1A
mapped_gene: FCER1A
snp_gene_ids: 2205
strongest_risk_snp: rs2251746
strongest_risk_allele: C
snps: rs2251746
snp_id_current: 2251746
context: intron
pvalue_mlog: 19.69897000433602
ci_95: [NR] % decrease
platform: Affymetrix[353,569]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18846228?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Ferreira MA
date: 2008-08-17
journal: Nat Genet
trait: Bipolar disorder
initial_samplesize: 4,387 European ancestry cases, 6,209 European ancestry controls
region: 10q21.2
chrom: 10
reported_genes: ANK3
mapped_gene: ANK3
snp_gene_ids: 288
strongest_risk_snp: rs10994336
strongest_risk_allele: T
snps: rs10994336
snp_id_current: 10994336
context: intron
pvalue_mlog: 8.045757490560675
ci_95: [NR]
platform: Affymetrix[1,769,948]imputed
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18711365?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.


dbdate: 2009-04-10
author: Unoki H
date: 2008-08-17
journal: Nat Genet
trait: Type 2 diabetes
initial_samplesize: 194 Japanese ancestry cases, 1,558 Japanese ancestry controls
region: 6p22.3
chrom: 6
reported_genes: CDKAL1
mapped_gene: CDKAL1
snp_gene_ids: 54901
strongest_risk_snp: rs4712524
strongest_risk_allele: G
snps: rs4712524
snp_id_current: 4712524
context: intron
pvalue_mlog: 9.522878745280336
ci_95: [1.15-1.31]
platform: Affymetrix [207,097]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18711366?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

study:
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.

replication_samplesize:
5,324 East Asian ancestry cases, 7,037 East Asian ancestry controls, 4,085 European ancestry cases, 5,302 European ancestry controls


dbdate: 2009-04-03
author: Yasuda K
date: 2008-08-17
journal: Nat Genet
study: Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.
trait: Type 2 diabetes
initial_samplesize: 187 Japanese cases, 1,504 Japanese controls
replication_samplesize: 6,552 Asian cases, 6,621 Asian controls, 2,830 cases, 3,740 controls (Swedish)
region: 11p15.4
chrom: 11
reported_genes: KCNQ1
mapped_gene: KCNQ1
snp_gene_ids: 3784
strongest_risk_snp: rs2237892
strongest_risk_allele: C
snps: rs2237892
snp_id_current: 2237892
context: intron
pvalue_mlog: 41.69897000433601
ci_95: [1.34-1.47]
platform: Invader [82,343]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18711367?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Julia A
date: 2008-08-01
journal: Arthritis Rheum
trait: Rheumatoid arthritis
initial_samplesize: 400 European ancestry cases, 400 European ancestry controls
replication_samplesize: 410 European ancestry cases, 394 European ancestry controls
region: 18q23
chrom: 18
reported_genes: SALL3
mapped_gene: LINC01029 - SALL3
upstream_gene_id: 101927715
downstream_gene_id: 27164
strongest_risk_snp: rs2002842
strongest_risk_allele: A
snps: rs2002842
snp_id_current: 2002842
context: Intergenic
pvalue_mlog: 5.221848749616356
ci_95: [NR]
platform: Illumina[299,918]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18668548?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.


dbdate: 2008-11-25
author: O'Donovan MC
date: 2008-07-30
journal: Nat Genet
study: Identification of loci associated with schizophrenia by genome-wide association and follow-up.
trait: Schizophrenia
initial_samplesize: 479 European ancestry cases, 2,937 European ancestry controls
region: 2q32.1
chrom: 2
reported_genes: ZNF804A
mapped_gene: ZNF804A
snp_gene_ids: 91752
strongest_risk_snp: rs1344706
strongest_risk_allele: T
snps: rs1344706
snp_id_current: 1344706
context: intron
pvalue_mlog: 6.698970004336019
ci_95: [NR]
platform: Affymetrix[362,532]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18677311?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

replication_samplesize:
4,143 European ancestry cases, 6,515 European ancestry controls, 1,782 East Asian ancestry cases, 1,865 East Asian ancestry controls, 741 Other ancestry cases, 1,517 Other ancestry controls


dbdate: 2008-11-25
author: Schormair B
date: 2008-07-27
journal: Nat Genet
study: PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
trait: Restless legs syndrome
initial_samplesize: 628 European ancestry cases, 1,644 European ancestry controls
region: 9p24.1
chrom: 9
reported_genes: PTPRD
mapped_gene: PTPRD
snp_gene_ids: 5789
strongest_risk_snp: rs1975197
strongest_risk_allele: T
snps: rs1975197
snp_id_current: 1975197
context: intron
pvalue_mlog: 8.221848749616356
ci_95: [1.20-1.44]
platform: Affymetrix[208,733]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18660810?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

replication_samplesize:
1,550 European ancestry cases, 2,269 European ancestry controls, 285 French Canadian founder cases, 842 French Canadian founder controls


dbdate: 2008-11-25
author: Link E
date: 2008-07-23
journal: N Engl J Med
study: SLCO1B1 variants and statin-induced myopathy--a genomewide study.
trait: Response to statin therapy
initial_samplesize: 85 European ancestry cases, 90 European ancestry controls
replication_samplesize: 21 European ancestry cases, 16,643 European ancestry controls
region: 12p12.1
chrom: 12
reported_genes: SLCO1B1
mapped_gene: SLCO1B1
snp_gene_ids: 10599
strongest_risk_snp: rs4149056
strongest_risk_allele: C
snps: rs4149056
snp_id_current: 4149056
context: missense
pvalue_mlog: 8.698970004336019
ci_95: [2.60-7.70]
platform: Illumina[316,184]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18650507?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Franke A
date: 2008-07-21
journal: Gastroenterology
trait: Crohn's disease and sarcoidosis (combined)
region: 10p12.2
chrom: 10
reported_genes: C10orf67
mapped_gene: C10orf67 - MIR1254-2
upstream_gene_id: 256815
downstream_gene_id: 100616217
strongest_risk_snp: rs1398024
strongest_risk_allele: A
snps: rs1398024
snp_id_current: 1398024
context: Intergenic
pvalue_mlog: 5.397940008672037
ci_95: [1.04-1.45]
platform: Affymetrix[83,360]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18723019?ordinalpos=6&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.

initial_samplesize:
382 European ancestry Crohn's disease cases, 398 European ancestry Sarcoidosis cases, 394 European ancestry controls

replication_samplesize:
660 European ancestry Crohn's disease cases, 657 European ancestry Sarcoidosis cases, 1,091 European ancestry controls


dbdate: 2008-11-25
author: Liu C
date: 2008-07-10
journal: Mol Med
trait: Response to TNF antagonist treatment
initial_samplesize: 89 European ancestry cases
region: 20q12
chrom: 20
reported_genes: MAFB
mapped_gene: HSPE1P1 - MAFB
upstream_gene_id: 140895
downstream_gene_id: 9935
strongest_risk_snp: rs6028945
strongest_risk_allele: T
snps: rs6028945
snp_id_current: 6028945
context: Intergenic
pvalue_mlog: 6.698970004336019
platform: Illumina[283,348]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18615156?ordinalpos=6&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.


dbdate: 2008-11-25
author: Pare G
date: 2008-07-04
journal: PLoS Genet
trait: Soluble ICAM-1
initial_samplesize: 4,570 European ancestry women
replication_samplesize: 2,008 European ancestry women
region: 9q34.2
chrom: 9
reported_genes: ABO
mapped_gene: ABO
snp_gene_ids: 28
strongest_risk_snp: rs507666
strongest_risk_allele: G
snps: rs507666
snp_id_current: 507666
context: intron
pvalue_mlog: 28.30102999566398
ci_95: [NR] umol/L decrease
platform: Illumina[336,108]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18604267?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.


dbdate: 2008-11-25
author: Sarasquete ME
date: 2008-07-01
journal: Blood
trait: Osteonecrosis of the jaw
initial_samplesize: 22 European ancestry cases, 65 European ancestry controls
region: 10q23.33
chrom: 10
reported_genes: CYP2C8
mapped_gene: CYP2C8
snp_gene_ids: 1558
strongest_risk_snp: rs1934951
strongest_risk_allele: T
snps: rs1934951
snp_id_current: 1934951
context: intron
pvalue_mlog: 5.999999999999999
ci_95: [3.7-43.5]
platform: Affymetrix[339,972]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18594024?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis.


dbdate: 2008-11-25
author: Barrett JC
date: 2008-06-29
journal: Nat Genet
study: Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
trait: Crohn's disease
initial_samplesize: 3,230 European ancestry cases, 4,829 European ancestry controls
replication_samplesize: 1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls
region: 13q14.11
chrom: 13
reported_genes: Unknown
mapped_gene: LACC1
snp_gene_ids: 144811
strongest_risk_snp: rs3764147
strongest_risk_allele: G
snps: rs3764147
snp_id_current: 3764147
context: missense
pvalue_mlog: 12.69897000433602
ci_95: [NR]
platform: Affymetrix and Illumina[635,547](imputed)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18587394?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Behrens EM
date: 2008-06-24
journal: Arthritis Rheum
study: Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.
trait: Arthritis (juvenile idiopathic)
initial_samplesize: 67 European ancestry cases, 1,952 European ancestry controls, 63 cases
region: 6p21.32
chrom: 6
reported_genes: HLA-DRB1
mapped_gene: C6orf10
snp_gene_ids: 10665
strongest_risk_snp: rs2395148
snps: rs2395148
snp_id_current: 2395148
context: intron
pvalue_mlog: 9.698970004336017
ci_95: [3.02-9.56]
platform: Illumina[524,684]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18576341?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Bouatia-Naji N
date: 2008-06-19
journal: Science
study: A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.
trait: Fasting plasma glucose
initial_samplesize: 654 European ancestry individuals
replication_samplesize: 9,353 European ancestry individuals
region: 2q31.1
chrom: 2
reported_genes: G6PC2
mapped_gene: G6PC2
snp_gene_ids: 57818
strongest_risk_snp: rs560887
strongest_risk_allele: A
snps: rs560887
snp_id_current: 560887
context: intron
pvalue_mlog: 22.39794000867203
ci_95: [0.05-0.08] mmol/l decrease
platform: Illumina[392,935]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18451265?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Cooper GM
date: 2008-06-05
journal: Blood
study: A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
trait: Warfarin maintenance dose
initial_samplesize: 181 European ancestry individuals
replication_samplesize: 374 European ancestry individuals
region: 12p13.33
chrom: 12
reported_genes: CACNA1C
mapped_gene: CACNA1C
snp_gene_ids: 775
strongest_risk_snp: rs216013
snps: rs216013
snp_id_current: 216013
context: intron
pvalue_mlog: 6.045757490560675
platform: Illumina[538,629]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18535201?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Chen WM
date: 2008-06-04
journal: J Clin Invest
study: Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
trait: Fasting plasma glucose
initial_samplesize: 5,088 European ancestry individuals
replication_samplesize: 18,436 European ancestry individuals
region: 2q31.1
chrom: 2
reported_genes: G6PC2,ABCB11
mapped_gene: G6PC2 - ABCB11
upstream_gene_id: 57818
downstream_gene_id: 8647
strongest_risk_snp: rs563694
strongest_risk_allele: C
snps: rs563694
snp_id_current: 563694
context: Intergenic
pvalue_mlog: 6.397940008672037
platform: Illumina[315,635]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18521185?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Volpi S
date: 2008-06-03
journal: Mol Psychiatry
trait: Response to iloperidone treatment (QT prolongation)
region: 14q12
chrom: 14
reported_genes: NUBPL
mapped_gene: NUBPL
snp_gene_ids: 80224
strongest_risk_snp: rs7142881
strongest_risk_allele: A
snps: rs7142881
snp_id_current: 7142881
context: intron
pvalue_mlog: 5.698970004336018
platform: Affymetrix[339,272]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18521091?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.

initial_samplesize:
91 African American Schizophrenia cases, 69 European ancestry Schizophrenia cases, 16 Asian unspecified Schizophrenia cases, 7 Other ancestry Schizophrenia cases


dbdate: 2008-11-25
author: Brown KM
date: 2008-05-18
journal: Nat Genet
study: Common sequence variants on 20q11.22 confer melanoma susceptibility.
trait: Melanoma
initial_samplesize: 864 European ancestry cases, 864 European ancestry controls
replication_samplesize: 1,230 European ancestry cases, 1,251 European ancestry controls
region: 20q11.22
chrom: 20
reported_genes: CDC91L1
mapped_gene: PIGU
snp_gene_ids: 128869
strongest_risk_snp: rs910873
strongest_risk_allele: T
snps: rs910873
snp_id_current: 910873
context: intron
pvalue_mlog: 15
ci_95: [1.53-2.01]
platform: Illumina[535,150](pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18488026?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Sulem P
date: 2008-05-18
journal: Nat Genet
study: Two newly identified genetic determinants of pigmentation in Europeans.
trait: Blond vs. brown hair color
initial_samplesize: 5,130 European ancestry individuals
replication_samplesize: 3,330 European ancestry individuals
region: 11q13.3
chrom: 11
reported_genes: TPCN2
mapped_gene: TPCN2
snp_gene_ids: 219931
strongest_risk_snp: rs35264875
strongest_risk_allele: T
snps: rs35264875
snp_id_current: 35264875
context: missense
pvalue_mlog: 29.39794000867203
ci_95: [1.96-3.15]
platform: Illumina[316,515]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18488028?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Han J
date: 2008-05-16
journal: PLoS Genet
trait: Black vs. blond hair color
initial_samplesize: 2,287 European ancestry women
replication_samplesize: 8,465 European ancestry individuals
region: 6p25.3
chrom: 6
reported_genes: IRF4
mapped_gene: IRF4
snp_gene_ids: 3662
strongest_risk_snp: rs12203592
strongest_risk_allele: T
snps: rs12203592
snp_id_current: 12203592
context: intron
pvalue_mlog: 126.1549019599857
ci_95: [0.33-0.37] decrease in hair color score
platform: Illumina[528,173]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18483556?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.


dbdate: 2008-11-25
author: Maris JM
date: 2008-05-09
journal: N Engl J Med
study: Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
trait: Neuroblastoma
initial_samplesize: 1,032 European ancestry cases, 2,043 European ancestry controls
replication_samplesize: 720 European ancestry cases, 2,128 European ancestry controls
region: 6p22.3
chrom: 6
reported_genes: FLJ22536, FLJ44180
mapped_gene: CASC15;CASC14
snp_gene_ids: 401237;729177
strongest_risk_snp: rs6939340
strongest_risk_allele: G
snps: rs6939340
snp_id_current: 6939340
context: intron;intron
pvalue_mlog: 14.04575749056067
ci_95: [1.27-1.49]
platform: Illumina[464,934]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18463370?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Melzer D
date: 2008-05-09
journal: PLoS Genet
study: A genome-wide association study identifies protein quantitative trait loci (pQTLs).
trait: Protein quantitative trait loci
initial_samplesize: 1,200 European ancestry individuals
replication_samplesize: up to 4,590 European ancestry individuals
region: 1q21.3
chrom: 1
reported_genes: IL6R
mapped_gene: IL6R
snp_gene_ids: 3570
strongest_risk_snp: rs4129267
snps: rs4129267
snp_id_current: 4129267
context: intron
pvalue_mlog: 56.69897000433601
platform: Illumina[496,032]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18464913?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Valdes AM
date: 2008-05-08
journal: Am J Hum Genet
trait: Knee osteoarthritis
initial_samplesize: 357 European ancestry cases, 285 European ancestry controls
replication_samplesize: 1,177 European ancestry cases, 2,372 European ancestry controls
region: 1q31.1
chrom: 1
reported_genes: PTGS2, PLA2G4A
mapped_gene: PTGS2 - PLA2G4A
upstream_gene_id: 5743
downstream_gene_id: 5321
strongest_risk_snp: rs4140564
snps: rs4140564
snp_id_current: 4140564
context: Intergenic
pvalue_mlog: 5.522878745280337
ci_95: [1.31-1.94]
platform: Illumina[413,461]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18471798?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis.


dbdate: 2008-11-25
author: Loos RJ
date: 2008-05-04
journal: Nat Genet
study: Common variants near MC4R are associated with fat mass, weight and risk of obesity.
trait: Body mass index
initial_samplesize: 16,876 European ancestry adults
replication_samplesize: 60,352 European ancestry adults, 5,988 European ancestry children
region: 18q21.32
chrom: 18
reported_genes: MC4R
mapped_gene: RPS3AP49 - MC4R
upstream_gene_id: 400652
downstream_gene_id: 4160
strongest_risk_snp: rs17782313
strongest_risk_allele: C
snps: rs17782313
snp_id_current: 17782313
context: Intergenic
pvalue_mlog: 14.52287874528034
ci_95: [0.04-0.06] unit increase in log(BMI)
platform: Affymetrix[344,883]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18454148?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Richards JB
date: 2008-04-29
journal: Lancet
study: Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.
trait: Bone mineral density
initial_samplesize: 2,094 European ancestry women
replication_samplesize: 6,463 European ancestry individuals
region: 8q24.12
chrom: 8
reported_genes: TNFRSF11B
mapped_gene: RPS26P35 - TNFRSF11B
upstream_gene_id: 441377
downstream_gene_id: 4982
strongest_risk_snp: rs4355801
strongest_risk_allele: A
snps: rs4355801
snp_id_current: 4355801
context: Intergenic
pvalue_mlog: 9.096910013008054
ci_95: [NR] SD decrease
platform: Illumina [314,075]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18455228?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Styrkarsdottir U
date: 2008-04-29
journal: N Engl J Med
study: Multiple genetic loci for bone mineral density and fractures.
trait: Bone mineral density (hip)
initial_samplesize: 5,861 European ancestry individuals
replication_samplesize: 7,925 European ancestry individuals
region: 1p36.12
chrom: 1
reported_genes: ZBTB40
mapped_gene: MIR4418 - ZBTB40
upstream_gene_id: 100616433
downstream_gene_id: 9923
strongest_risk_snp: rs7524102
strongest_risk_allele: A
snps: rs7524102
snp_id_current: 7524102
context: Intergenic
pvalue_mlog: 15.30102999566398
ci_95: [0.11-0.19] s.d. decrease
platform: Illumina[301,019]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18445777?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Reiner AP
date: 2008-04-24
journal: Am J Hum Genet
trait: C-reactive protein
initial_samplesize: 909 European ancestry individuals
replication_samplesize: 5,106 European ancestry individuals
region: 12q24.31
chrom: 12
reported_genes: HNF1A
mapped_gene: HNF1A
snp_gene_ids: 6927
strongest_risk_snp: rs1169310
strongest_risk_allele: A
snps: rs1169310
snp_id_current: 1169310
context: UTR-3
pvalue_mlog: 7.698970004336018
ci_95: [0.08-0.17] mg/l decrease in log(CRP) level
platform: Illumina[317,000]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18439552?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.


dbdate: 2008-11-25
author: Ridker PM
date: 2008-04-24
journal: Am J Hum Genet
trait: C-reactive protein
initial_samplesize: 6,345 European ancestry women
region: 1p31.3
chrom: 1
reported_genes: LEPR
mapped_gene: LEPR - PDE4B
upstream_gene_id: 3953
downstream_gene_id: 5142
strongest_risk_snp: rs1892534
strongest_risk_allele: A
snps: rs1892534
snp_id_current: 1892534
context: Intergenic
pvalue_mlog: 20.15490195998574
ci_95: [NR] mg/dl decrease
platform: Illumina[336,108]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18439548?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.


dbdate: 2008-11-25
author: Ober C
date: 2008-04-09
journal: N Engl J Med
study: Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
trait: YKL-40 levels
initial_samplesize: 632 Hutterite individuals
replication_samplesize: 443 European ancestry cases, 491 European ancestry controls, 206 European ancestry individuals
region: 1q32.1
chrom: 1
reported_genes: CHI3L1
mapped_gene: CHI3L1
snp_gene_ids: 1116
strongest_risk_snp: rs4950928
strongest_risk_allele: G
snps: rs4950928
snp_id_current: 4950928
context: UTR-5
pvalue_mlog: 13
ci_95: [NR] ng/ml decrease
platform: Affymetrix[290,325]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18403759?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Gudbjartsson DF
date: 2008-04-06
journal: Nat Genet
study: Many sequence variants affecting diversity of adult human height.
trait: Height
initial_samplesize: 30,968 European ancestry individuals
replication_samplesize: 8,541 European ancestry individuals
region: 3q23
chrom: 3
reported_genes: ZBTB38
mapped_gene: ZBTB38
snp_gene_ids: 253461
strongest_risk_snp: rs6763931
strongest_risk_allele: A
snps: rs6763931
snp_id_current: 6763931
context: intron
pvalue_mlog: 27
ci_95: [6.03-8.77] % s.d. taller
platform: Illumina and Affymetrix[up to 304,226]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18391951?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Lettre G
date: 2008-04-06
journal: Nat Genet
trait: Height
initial_samplesize: 15,821 European ancestry individuals
replication_samplesize: Up to 17,801 European ancestry individuals
region: 3q23
chrom: 3
reported_genes: ZBTB38
mapped_gene: ZBTB38
snp_gene_ids: 253461
strongest_risk_snp: rs724016
strongest_risk_allele: G
snps: rs724016
snp_id_current: 724016
context: intron
pvalue_mlog: 21.09691001300805
ci_95: [0.29-0.45] cm taller
platform: Affymetrix and Illumina[2,260,683](imputed)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18391950?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Identification of ten loci associated with height highlights new biological pathways in human growth.


dbdate: 2008-11-25
author: Weedon MN
date: 2008-04-06
journal: Nat Genet
study: Genome-wide association analysis identifies 20 loci that influence adult height.
trait: Height
initial_samplesize: 13,665 European ancestry individuals
replication_samplesize: 16,482 European ancestry individuals
region: 3q23
chrom: 3
reported_genes: ZBTB38
mapped_gene: ZBTB38
snp_gene_ids: 253461
strongest_risk_snp: rs6440003
strongest_risk_allele: A
snps: rs6440003
snp_id_current: 6440003
context: intron
pvalue_mlog: 23.69897000433602
ci_95: [0.04-0.09] s.d. taller - among males
platform: Affymetrix[402,951]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18391952?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Liu Y
date: 2008-04-04
journal: PLoS Genet
study: A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.
trait: Psoriasis
initial_samplesize: 218 European ancestry cases, 519 European ancestry controls
replication_samplesize: 1,153 European ancestry cases, 1,217 European ancestry controls
region: 13q14.11
chrom: 13
reported_genes: COG6
mapped_gene: COG6
snp_gene_ids: 57511
strongest_risk_snp: rs7993214
snps: rs7993214
snp_id_current: 7993214
context: intron
pvalue_mlog: 5.698970004336018
ci_95: [1.22-1.61]
platform: Illumina[305,983]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18369459?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Amos CI
date: 2008-04-03
journal: Nat Genet
trait: Lung cancer
initial_samplesize: 1,154 European ancestry cases, 1,137 European ancestry controls
replication_samplesize: 2,724 European ancestry cases, 3,694 European ancestry controls
region: 15q25.1
chrom: 15
reported_genes: CHRNA3, CHRNA5, PSMA4, LOC123688
mapped_gene: HYKK
snp_gene_ids: 123688
strongest_risk_snp: rs8034191
strongest_risk_allele: G
snps: rs8034191
snp_id_current: 8034191
context: intron
pvalue_mlog: 17.52287874528034
ci_95: [1.15-1.47]
platform: Illumina[317,498]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18385676?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.


dbdate: 2008-11-25
author: Hung RJ
date: 2008-04-03
journal: Nature
trait: Lung cancer
initial_samplesize: 1,926 European ance other ancestry cases, 2,522 European and other ancestry controls
region: 15q25.1
chrom: 15
reported_genes: CHRNA3,CHRNA5, CHRNB4, PSMA4, LOC123688
mapped_gene: HYKK
snp_gene_ids: 123688
strongest_risk_snp: rs8034191
strongest_risk_allele: C
snps: rs8034191
snp_id_current: 8034191
context: intron
pvalue_mlog: 19.30102999566398
ci_95: [1.23-1.37]
platform: Illumina[310,023]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18385738?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.

replication_samplesize:
332 European ancestry cases, 462 European ancestry controls, 2,181 European and other ancestry cases, 4,290 European and other ancestry controls


dbdate: 2008-11-25
author: Thorgeirsson TE
date: 2008-04-03
journal: Nature
study: A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
trait: Nicotine dependence
initial_samplesize: 10,995 European ancestry individuals
replication_samplesize: 4,848 European ancestry individuals
region: 15q25.1
chrom: 15
reported_genes: CHRNA3,CHRNA5,CHRNB4
mapped_gene: CHRNA3
snp_gene_ids: 1136
strongest_risk_snp: rs1051730
strongest_risk_allele: T
snps: rs1051730
snp_id_current: 1051730
context: STOP-GAIN
pvalue_mlog: 19.22184874961636
ci_95: [0.08-0.12] increase in cigarettes per day
platform: Illumina[306,207]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18385739?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Tenesa A
date: 2008-03-30
journal: Nat Genet
trait: Colorectal cancer
initial_samplesize: 981 European ancestry cases, 1,002 European ancestry controls
region: 8q24.21
chrom: 8
reported_genes: POU5FIP1, HsG57825, DQ515897
mapped_gene: LOC101930033
snp_gene_ids: 101930033
strongest_risk_snp: rs7014346
strongest_risk_allele: A
snps: rs7014346
snp_id_current: 7014346
context: intron
pvalue_mlog: 25.04575749056067
ci_95: [1.15-1.23]
platform: Illumina[541,628]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18372901?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

replication_samplesize:
10,287 European ancestry cases, 10,401 European ancestry controls, 4,400 Japanese ancestry cases, 3,179 Japanese ancestry controls, 1,789 Other ancestry cases, 1,771 Other ancestry controls


dbdate: 2008-11-25
author: Tomlinson IP
date: 2008-03-30
journal: Nat Genet
trait: Colorectal cancer
initial_samplesize: 922 European ancestry cases, 927 European ancestry controls
region: 10p14
chrom: 10
reported_genes: Intergenic
mapped_gene: RNA5SP299 - LINC00709
upstream_gene_id: 100873574
downstream_gene_id: 100507163
strongest_risk_snp: rs10795668
strongest_risk_allele: A
snps: rs10795668
snp_id_current: 10795668
context: Intergenic
pvalue_mlog: 12.52287874528034
ci_95: [1.10-1.16]
platform: Illumina[547,647]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18372905?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.

replication_samplesize:
17,089 European ancestry cases, 16,862 European ancestry controls, 783 Other ancestry cases, 664 Other ancestry controls


dbdate: 2008-11-25
author: Zeggini E
date: 2008-03-30
journal: Nat Genet
trait: Type 2 diabetes
initial_samplesize: 4,549 European ancestry cases, 5,579 European ancestry controls
replication_samplesize: 24,194 European ancestry cases, 55,598 European ancestry controls
region: 7p15.1
chrom: 7
reported_genes: JAZF1
mapped_gene: JAZF1
snp_gene_ids: 221895
strongest_risk_snp: rs864745
strongest_risk_allele: T
snps: rs864745
snp_id_current: 864745
context: intron
pvalue_mlog: 13.30102999566398
ci_95: [1.07-1.13]
platform: Affymetrix and Illumina[2,202,892](imputed)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18372903?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.


dbdate: 2008-11-25
author: Capon F
date: 2008-03-25
journal: Hum Mol Genet
study: Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.
trait: Psoriasis
initial_samplesize: 318 European ancestry cases, 288 European ancestry controls
replication_samplesize: 2,361 European ancestry cases, 1,927 European ancestry controls
region: 20q13.13
chrom: 20
reported_genes: SPATA2
mapped_gene: SPATA2
snp_gene_ids: 9825
strongest_risk_snp: rs495337
snps: rs495337
snp_id_current: 495337
context: cds-synon
pvalue_mlog: 8
ci_95: [1.12-1.39]
platform: Illumina[~408,000] (pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18364390?ordinalpos=12&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Sullivan PF
date: 2008-03-18
journal: Mol Psychiatry
study: Genomewide association for schizophrenia in the CATIE study: results of stage 1.
trait: Schizophrenia
region: 15q25.3
chrom: 15
reported_genes: AGBL1
mapped_gene: AGBL1
snp_gene_ids: 123624
strongest_risk_snp: rs16977195
snps: rs16977195
snp_id_current: 16977195
context: intron
pvalue_mlog: 5.698970004336018
ci_95: [NR]
platform: Affymetrix[492,900]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18347602?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

initial_samplesize:
417 European ancestry cases, 411 European ancestry controls, 217 African American cases, 219 African American controls, 104 cases of American Indian, Asian unspecified, Pacific Islander, or Hispanic/Latino ancestry, 103 controls of American Indian, Asian unspecified, Pacific Islander, or Hispanic/Latino ancestry


dbdate: 2008-11-25
author: Gold B
date: 2008-03-11
journal: Proc Natl Acad Sci U S A
link: http://www.ncbi.nlm.nih.gov/pubmed/18326623
study: Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
trait: Breast cancer
region: 6q22.33
chrom: 6
reported_genes: ECHDC1,RNF146
mapped_gene: RNF146
snp_gene_ids: 81847
strongest_risk_snp: rs2180341
strongest_risk_allele: G
snps: rs2180341
snp_id_current: 2180341
context: intron
pvalue_mlog: 7.522878745280337
ci_95: [1.25-1.59]
platform: Affymetrix[150,080]
cnv: N
initial_samplesize:
249 Ashkenazi Jewish ancestry non-BRCA1/2 carriers cases, 299 Ashkenazi Jewish ancestry non-BRCA1/2 carriers controls

replication_samplesize:
1,193 Ashkenazi Jewish ancestry non-BRCA1/2 carriers  cases,1,166 Ashkenazi Jewish ancestry non-BRCA1/2 carriers controls


dbdate: 2008-11-25
author: Kirov G
date: 2008-03-11
journal: Mol Psychiatry
study: A genome-wide association study in 574 schizophrenia trios using DNA pooling.
trait: Schizophrenia
initial_samplesize: 574 European ancestry trios, 605 European ancestry controls
region: 12q24.23
chrom: 12
reported_genes: CCDC60
mapped_gene: CCDC60
snp_gene_ids: 160777
strongest_risk_snp: rs11064768
strongest_risk_allele: A
snps: rs11064768
snp_id_current: 11064768
context: intron
pvalue_mlog: 5.999999999999999
platform: Illumina[~550,000](pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18332876?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Doring A
date: 2008-03-09
journal: Nat Genet
study: SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
trait: Urate levels
initial_samplesize: 1,644 European ancestry individuals
replication_samplesize: 9,947 European ancestry individuals
region: 4p16.1
chrom: 4
reported_genes: SLC2A9
mapped_gene: SLC2A9
snp_gene_ids: 56606
strongest_risk_snp: rs7442295
strongest_risk_allele: C
snps: rs7442295
snp_id_current: 7442295
context: intron
pvalue_mlog: 69.52287874528032
ci_95: [NR] mg/dl decrease in uric acid
platform: Affymetrix[335,152]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18327256?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Vitart V
date: 2008-03-09
journal: Nat Genet
trait: Urate levels
initial_samplesize: 794 European ancestry individuals
replication_samplesize: 706 European ancestry individuals
region: 4p16.1
chrom: 4
reported_genes: SLC2A9
mapped_gene: SLC2A9
snp_gene_ids: 56606
strongest_risk_snp: rs737267
strongest_risk_allele: C
snps: rs737267
snp_id_current: 737267
context: intron
pvalue_mlog: 8.522878745280337
ci_95: [NR] uM decrease in uric acid [females only]
platform: Illumina[308,140]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18327257?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.


dbdate: 2008-11-25
author: Hunt KA
date: 2008-03-02
journal: Nat Genet
study: Newly identified genetic risk variants for celiac disease related to the immune response.
trait: Celiac disease
initial_samplesize: 767 European ancestry cases, 1,422 European ancestry controls
replication_samplesize: 1,643 European ancestry cases, 3,406 European ancestry controls
region: 1q31.2
chrom: 1
reported_genes: RGS1
mapped_gene: RGS21 - RGS1
upstream_gene_id: 431704
downstream_gene_id: 5996
strongest_risk_snp: rs2816316
strongest_risk_allele: C
snps: rs2816316
snp_id_current: 2816316
context: Intergenic
pvalue_mlog: 10.52287874528034
ci_95: [1.26-1.53]
platform: Illumina[310,605]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18311140?ordinalpos=7&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Shifman S
date: 2008-02-15
journal: PLoS Genet
trait: Schizophrenia
initial_samplesize: 660 Ashkenazi Jewish cases, 2,271 Ashkenazi Jewish controls
region: 7q22.1
chrom: 7
reported_genes: RELN
mapped_gene: RELN
snp_gene_ids: 5649
strongest_risk_snp: rs7341475
strongest_risk_allele: G
snps: rs7341475
snp_id_current: 7341475
context: intron
pvalue_mlog: 6.045757490560675
ci_95: [1.31-1.89]
platform: Affymetrix [510,552]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18282107?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women.

replication_samplesize:
1,859 European ancestry cases, 3,943 European ancestry controls, 759 Ashkenazi Jewish cases, 3,389 Ashkenazi Jewish controls, 415 Han Chinese ancestry cases, 458 Han Chinese ancestry controls


dbdate: 2008-11-25
author: Eeles RA
date: 2008-02-10
journal: Nat Genet
study: Multiple newly identified loci associated with prostate cancer susceptibility.
trait: Prostate cancer
initial_samplesize: 1,854 European ancestry cases, 1,894 European ancestry controls
replication_samplesize: 3,268 European ancestry cases, 3,366 European ancestry controls
region: 10q11.23
chrom: 10
reported_genes: MSMB
mapped_gene: MSMB
snp_gene_ids: 4477
strongest_risk_snp: rs10993994
strongest_risk_allele: T
snps: rs10993994
snp_id_current: 10993994
context: nearGene-5
pvalue_mlog: 28.04575749056067
ci_95: [1.17-1.34]
platform: Illumina [541,129]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18264097?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Gudmundsson J
date: 2008-02-10
journal: Nat Genet
study: Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.
trait: Prostate cancer
initial_samplesize: 1,854 European ancestry cases, 21,372 European ancestry controls
replication_samplesize: 8,239 European ancestry cases, 7,590 European ancestry controls
region: Xp11.22
chrom: 23
reported_genes: NUDT10, NUDT11, LOC340602
mapped_gene: CXorf67 - NUDT11
upstream_gene_id: 340602
downstream_gene_id: 55190
strongest_risk_snp: rs5945572
strongest_risk_allele: A
snps: rs5945572
snp_id_current: 5945572
context: Intergenic
pvalue_mlog: 12.39794000867204
ci_95: [1.16-1.30]
platform: Illumina[310,520]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18264098?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Thomas G
date: 2008-02-10
journal: Nat Genet
study: Multiple loci identified in a genome-wide association study of prostate cancer.
trait: Prostate cancer
initial_samplesize: 1,172 European ancestry cases, 1,157 European ancestry controls
replication_samplesize: 3,941 European ancestry cases, 3,964 European ancestry controls
region: 10q11.23
chrom: 10
reported_genes: MSMB
mapped_gene: MSMB
snp_gene_ids: 4477
strongest_risk_snp: rs10993994
strongest_risk_allele: T
snps: rs10993994
snp_id_current: 10993994
context: nearGene-5
pvalue_mlog: 12.15490195998574
ci_95: [1.04-1.29]
platform: Illumina[527,869]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18264096?ordinalpos=6&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Sandhu MS
date: 2008-02-09
journal: Lancet
study: LDL-cholesterol concentrations: a genome-wide association study.
trait: LDL cholesterol
initial_samplesize: 11,685 European ancestry individuals
replication_samplesize: Up to 4,979 European ancestry individuals
region: 1p13.3
chrom: 1
reported_genes: CELSR2,PSRC1
mapped_gene: PSRC1
snp_gene_ids: 84722
strongest_risk_snp: rs599839
strongest_risk_allele: G
snps: rs599839
snp_id_current: 599839
context: nearGene-3
pvalue_mlog: 32.99999999999999
ci_95: [0.14-0.18] mmol/L decrease
platform: Affymetrix and Illumina [up to 461,986]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18262040?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Uda M
date: 2008-02-05
journal: Proc Natl Acad Sci U S A
trait: Fetal hemoglobin levels
initial_samplesize: 4,305 European ancestry individuals
replication_samplesize: 521 European ancestry individuals
region: 11p15.4
chrom: 11
reported_genes: HBB
mapped_gene: LCRB
snp_gene_ids: 387281
strongest_risk_snp: rs4910742
strongest_risk_allele: A
snps: rs4910742
snp_id_current: 4910742
pvalue_mlog: 21
ci_95: [NR] s.d. decrease in HbF
platform: Affymetrix [362,129]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18245381?rdinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.


dbdate: 2008-11-25
author: Kong A
date: 2008-02-02
journal: Science
study: Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
trait: Recombination rate (females)
initial_samplesize: 1,702 women
replication_samplesize: 1,663 women
region: 4p16.3
chrom: 4
reported_genes: RNF212,SPON2
mapped_gene: RNF212
snp_gene_ids: 285498
strongest_risk_snp: rs1670533
strongest_risk_allele: C
snps: rs1670533
snp_id_current: 1670533
context: intron
pvalue_mlog: 11.69897000433602
ci_95: [63.7-112.7] cM increase
platform: Illumina[309,241]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18239089?ordinalpos=7&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Kayser M
date: 2008-01-24
journal: Am J Hum Genet
trait: Iris color
initial_samplesize: 925 Erasmus Ruchpen individuals, 481 European ancestry women
replication_samplesize: 5,575 European ancestry individuals, 1,292 Erasmus Ruchpen individuals
region: 15q13.1
chrom: 15
reported_genes: HERC2
mapped_gene: HERC2
snp_gene_ids: 8924
strongest_risk_snp: rs916977
snps: rs916977
snp_id_current: 916977
context: intron
pvalue_mlog: 43
platform: Affymetrix and Illumina[up to ~500,000](pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18252221?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.


dbdate: 2008-11-25
author: Harley JB
date: 2008-01-20
journal: Nat Genet
trait: Systemic lupus erythematosus
initial_samplesize: 720 European ancestry female cases, 2,337 European ancestry female controls
replication_samplesize: 1,846 European ancestry female cases, 1,825 European ancestry female controls
region: 16p11.2
chrom: 16
reported_genes: ITGAM
mapped_gene: ITGAM
snp_gene_ids: 3684
strongest_risk_snp: rs9888739
strongest_risk_allele: T
snps: rs9888739
snp_id_current: 9888739
context: intron
pvalue_mlog: 22.69897000433602
ci_95: [1.47-1.78]
platform: Illumina [317,501]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18204446?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.


dbdate: 2008-11-25
author: Hom G
date: 2008-01-20
journal: N Engl J Med
study: Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
trait: Systemic lupus erythematosus
initial_samplesize: 1,311 European ancestry cases, 3,340 European ancestry controls
replication_samplesize: 793 European ancestry cases, 857 European ancestry controls
region: 8p23.1
chrom: 8
reported_genes: C8orf13, BLK
mapped_gene: FAM167A - BLK
upstream_gene_id: 83648
downstream_gene_id: 640
strongest_risk_snp: rs13277113
strongest_risk_allele: A
snps: rs13277113
snp_id_current: 13277113
context: Intergenic
pvalue_mlog: 10
ci_95: [1.28-1.51]
platform: Illumina[502,033]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18204098?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Kozyrev SV
date: 2008-01-20
journal: Nat Genet
study: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
trait: Systemic lupus erythematosus
initial_samplesize: 279 European ancestry cases, 515 European ancestry controls
replication_samplesize: 1,757 European ancestry cases, 1,540 European ancestry controls
region: 4q24
chrom: 4
reported_genes: BANK1
mapped_gene: BANK1
snp_gene_ids: 55024
strongest_risk_snp: rs10516487
strongest_risk_allele: G
snps: rs10516487
snp_id_current: 10516487
context: missense
pvalue_mlog: 9.397940008672037
ci_95: [1.25-1.53]
platform: Affymetrix[85,042]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18204447?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Hakonarson H
date: 2008-01-15
journal: Diabetes
trait: Type 1 diabetes
initial_samplesize: 467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls
region: 12q13.2
chrom: 12
reported_genes: RAB5B, SUOX, IKZF4, ERBB3, CDK2
mapped_gene: IKZF4
snp_gene_ids: 64375
strongest_risk_snp: rs1701704
strongest_risk_allele: C
snps: rs1701704
snp_id_current: 1701704
context: intron
pvalue_mlog: 9.045757490560675
ci_95: [1.12-1.40]
platform: Illumina[543,071]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18198356?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.

replication_samplesize:
946 European ancestry cases and 1,098 European ancestry controls from 549 families, 364 European ancestry trios


dbdate: 2008-11-25
author: Kathiresan S
date: 2008-01-13
journal: Nat Genet
trait: HDL cholesterol
initial_samplesize: 2,758 individuals
replication_samplesize: 18,544 individuals
region: 1q42.13
chrom: 1
reported_genes: GALNT2
mapped_gene: GALNT2
snp_gene_ids: 2590
strongest_risk_snp: rs4846914
strongest_risk_allele: G
snps: rs4846914
snp_id_current: 4846914
context: intron
pvalue_mlog: 12.69897000433602
ci_95: [0.05-0.09] % SD lower
platform: Affymetrix[389,878]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18193044?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.


dbdate: 2008-11-25
author: Kooner JS
date: 2008-01-13
journal: Nat Genet
study: Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
trait: Triglycerides
initial_samplesize: 1,005 European ancestry males, 1,006 Indian Asian ancestry males
region: 7q11.23
chrom: 7
reported_genes: MLXIPL
mapped_gene: MLXIPL
snp_gene_ids: 51085
strongest_risk_snp: rs3812316
strongest_risk_allele: C
snps: rs3812316
snp_id_current: 3812316
context: missense
pvalue_mlog: 10
ci_95: [5.3-17.7] % higher
platform: Perlegen[up to 216,774]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18193046?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

replication_samplesize:
6,827 European ancestry individuals, 2,528 Mexican ancestry individuals, 1,181 Indian Asian ancestry women


dbdate: 2008-11-25
author: Sanna S
date: 2008-01-13
journal: Nat Genet
study: Common variants in the GDF5-UQCC region are associated with variation in human height.
trait: Height
initial_samplesize: 1,084 European ancestry cases, 1,287 European ancestry controls, 4,298 European individuals
replication_samplesize: 23,684 European ancestry individuals, 3,860 African American individuals
region: 20q11.22
chrom: 20
reported_genes: BFZB
mapped_gene: UQCC1
snp_gene_ids: 55245
strongest_risk_snp: rs6060369
strongest_risk_allele: C
snps: rs6060369
snp_id_current: 6060369
context: intron
pvalue_mlog: 15.69897000433602
ci_95: [NR] cm taller
platform: Illumina and Affymetrix[~2,261,000] (imputed)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18193045?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Willer CJ
date: 2008-01-13
journal: Nat Genet
study: Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
trait: HDL cholesterol
initial_samplesize: 8,656 European ancestry individuals
replication_samplesize: 11,437 European ancestry individuals
region: 12q24.11
chrom: 12
reported_genes: MVK,MMAB
mapped_gene: KCTD10
snp_gene_ids: 83892
strongest_risk_snp: rs2338104
strongest_risk_allele: G
snps: rs2338104
snp_id_current: 2338104
context: intron
pvalue_mlog: 7.522878745280337
ci_95: [NR] mg/dl higher
platform: Illumina and Affymetrix[~2,261,000] (imputed)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18193043?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Wallace C
date: 2008-01-10
journal: Am J Hum Genet
trait: LDL cholesterol
initial_samplesize: 1,955 European ancestry hypertensive individuals
replication_samplesize: 2,033 European ancestry individuals from 519 families; 1,461 European ancestry twins
region: 1p13.3
chrom: 1
reported_genes: CELSR2,PSRC1
mapped_gene: PSRC1
snp_gene_ids: 84722
strongest_risk_snp: rs599839
strongest_risk_allele: G
snps: rs599839
snp_id_current: 599839
context: nearGene-3
pvalue_mlog: 7
ci_95: [0.93-0.97]
platform: Affymetrix[400,496]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18179892?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.


dbdate: 2008-11-25
author: Hinney A
date: 2007-12-26
journal: PLoS One
trait: Obesity (early onset extreme)
initial_samplesize: 487 European ancestry cases, 442 European ancestry controls
replication_samplesize: 2,269 European ancestry individuals from 644 families
region: 16q12.2
chrom: 16
reported_genes: FTO
mapped_gene: FTO
snp_gene_ids: 79068
strongest_risk_snp: rs1121980
strongest_risk_allele: T
snps: rs1121980
snp_id_current: 1121980
context: intron
pvalue_mlog: 7
ci_95: [1.37-2.01]
platform: Affymetrix[440,794]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18159244?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.


dbdate: 2008-11-25
author: van Es MA
date: 2007-12-16
journal: Nat Genet
study: Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
trait: Amyotrophic lateral sclerosis
initial_samplesize: 737 European ancestry cases, 721 European ancestry controls
replication_samplesize: 1,030 European ancestry cases, 1,195 European ancestry controls
region: 7q36.2
chrom: 7
reported_genes: DPP6
mapped_gene: DPP6
snp_gene_ids: 1804
strongest_risk_snp: rs10260404
strongest_risk_allele: C
snps: rs10260404
snp_id_current: 10260404
context: intron
pvalue_mlog: 7.30102999566398
ci_95: [1.18-1.43]
platform: Illumina[311,946]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18084291?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Cronin S
date: 2007-12-07
journal: Hum Mol Genet
study: A genome-wide association study of sporadic ALS in a homogenous Irish population.
trait: Amyotrophic lateral sclerosis
initial_samplesize: 221 Genetically Homogenous Irish cases, 211 Genetically Homogenous Irish controls
replication_samplesize: 737 European ancestry cases, 721 European ancestry controls
region: 7q36.2
chrom: 7
reported_genes: DPP6
mapped_gene: DPP6
snp_gene_ids: 1804
strongest_risk_snp: rs10260404
snps: rs10260404
snp_id_current: 10260404
context: intron
pvalue_mlog: 5.522878745280337
ci_95: [1.20-1.56]
platform: Illumina[497,917]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18057069?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Suzuki S
date: 2007-11-17
journal: Pharmacogenet Genomics
trait: Coronary spasm
initial_samplesize: 50 Japanese ancestry female cases, 50 Japanese ancestry female controls
replication_samplesize: 151 Japanese ancestry female cases, 160 Japanese ancestry female controls
region: 14q21.1
chrom: 14
reported_genes: Intergenic
mapped_gene: CLEC14A - KRT8P1
upstream_gene_id: 161198
downstream_gene_id: 338017
strongest_risk_snp: rs10498345
strongest_risk_allele: T
snps: rs10498345
snp_id_current: 10498345
context: Intergenic
pvalue_mlog: 6.045757490560675
ci_95: [1.64-3.23]
platform: Affymetrix[97,552]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/18075462?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A novel genetic marker for coronary spasm in women from a genome-wide single nucleotide polymorphism analysis.


dbdate: 2008-11-25
author: Li H
date: 2007-11-12
journal: Arch Neurol
study: Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.
trait: Alzheimer's disease
initial_samplesize: 753 European ancestry cases, 736 European ancestry controls
replication_samplesize: 418 European ancestry cases, 249 European ancestry controls
region: 19q13.32
chrom: 19
reported_genes: APOE, APOC1
mapped_gene: APOC1
snp_gene_ids: 341
strongest_risk_snp: rs4420638
snps: rs4420638
snp_id_current: 4420638
context: nearGene-3
pvalue_mlog: 43.69897000433602
platform: Affymetrix[469,438]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17998437?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Plenge RM
date: 2007-11-04
journal: Nat Genet
study: Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.
trait: Rheumatoid arthritis
initial_samplesize: 397 European ancestry cases, 1,211 Other ancestry controls
region: 6q23.3
chrom: 6
reported_genes: TNFAIP3, OLIG3
mapped_gene: BTF3L4P3 - TNFAIP3
upstream_gene_id: 391040
downstream_gene_id: 7128
strongest_risk_snp: rs10499194
strongest_risk_allele: C
snps: rs10499194
snp_id_current: 10499194
context: Intergenic
pvalue_mlog: 8.999999999999998
ci_95: [1.15-1.52]
platform: Affymetrix[79,853]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17982456?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

replication_samplesize:
1,408 Other ancestry cases, 2,426 Other ancestry controls, 875 European ancestry cases, 832 European ancestry controls


dbdate: 2008-11-25
author: Webster JA
date: 2007-11-01
journal: Neurodegener Dis
study: Sorl1 as an Alzheimer's disease predisposition gene?
trait: Alzheimer's disease
initial_samplesize: 664 cases, 422 controls
region: 19q13.32
chrom: 19
reported_genes: APOE
mapped_gene: APOC1
snp_gene_ids: 341
strongest_risk_snp: rs4420638
snps: rs4420638
snp_id_current: 4420638
context: nearGene-3
pvalue_mlog: 38.99999999999999
platform: Affymetrix[~502,627]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17975299?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Sulem P
date: 2007-10-21
journal: Nat Genet
study: Genetic determinants of hair, eye and skin pigmentation in Europeans.
trait: Blond vs. brown hair color
initial_samplesize: 2,986 European ancestry individuals
replication_samplesize: 3,932 European ancestry individuals
region: 12q21.33
chrom: 12
reported_genes: KITLG
mapped_gene: KITLG - MRPS6P4
upstream_gene_id: 4254
downstream_gene_id: 359782
strongest_risk_snp: rs12821256
strongest_risk_allele: C
snps: rs12821256
snp_id_current: 12821256
context: Intergenic
pvalue_mlog: 29.39794000867203
ci_95: [1.86-2.92]
platform: Illumina[317,511]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17952075?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2009-02-16
author: Sulem P
date: 2007-10-21
journal: Nat Genet
study: Genetic determinants of hair, eye and skin pigmentation in Europeans.
trait: Blue vs. brown eyes
initial_samplesize: 2,986 individuals
replication_samplesize: 3,932 individuals
region: 15q13.1
chrom: 15
reported_genes: OCA2
mapped_gene: HERC2
snp_gene_ids: 8924
strongest_risk_snp: rs1667394
strongest_risk_allele: A
snps: rs1667394
snp_id_current: 1667394
context: intron
pvalue_mlog: 241
ci_95: [21.47-40.35]
platform: Illumina[317,511]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17952075?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum+E2


dbdate: 2008-11-25
author: Stokowski RP
date: 2007-10-15
journal: Am J Hum Genet
study: A genomewide association study of skin pigmentation in a South Asian population.
trait: Skin pigmentation
initial_samplesize: 363 South Asian ancestry low maxL* individuals, 374 South Asian ancestry high maxL* individuals
replication_samplesize: 116 South Asian ancestry low maxL* individuals, 115 South Asian ancestry high maxL* individuals
region: 15q21.1
chrom: 15
reported_genes: SLC24A5
mapped_gene: RPL7AP62 - SLC24A5
upstream_gene_id: 644029
downstream_gene_id: 283652
strongest_risk_snp: rs1834640
strongest_risk_allele: G
snps: rs1834640
snp_id_current: 1834640
context: Intergenic
pvalue_mlog: 50
ci_95: [8.33-20.0]
platform: Perlegen [1,502,205] (pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17999355?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Broderick P
date: 2007-10-14
journal: Nat Genet
trait: Colorectal cancer
initial_samplesize: 930 European ancestry cases, 960 European ancestry controls
replication_samplesize: 7,473 European ancestry cases, 5,984 European ancestry controls
region: 18q21.1
chrom: 18
reported_genes: SMAD7
mapped_gene: SMAD7
snp_gene_ids: 4092
strongest_risk_snp: rs4939827
strongest_risk_allele: T
snps: rs4939827
snp_id_current: 4939827
context: intron
pvalue_mlog: 12
ci_95: [1.09-1.27]
platform: Illumina[547,647]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17934461?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.


dbdate: 2008-11-25
author: Benjamin EJ
date: 2007-09-19
journal: BMC Med Genet
study: Genome-wide association with select biomarker traits in the Framingham Heart Study.
trait: Select biomarker traits
initial_samplesize: 1,012 European ancestry individuals
region: 1q23.2
chrom: 1
reported_genes: FCER1A,OR10J3
mapped_gene: FCER1A
snp_gene_ids: 2205
strongest_risk_snp: rs2494250
snps: rs2494250
snp_id_current: 2494250
context: nearGene-3
pvalue_mlog: 14
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903293?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Fox CS
date: 2007-09-19
journal: BMC Med Genet
trait: Body mass index
initial_samplesize: 1,341 European ancestry individuals from 310 families
region: 7q32.3
chrom: 7
reported_genes: Intergenic
mapped_gene: RPS15AP22 - PLXNA4
upstream_gene_id: 100271557
downstream_gene_id: 91584
strongest_risk_snp: rs1106683
snps: rs1106683
snp_id_current: 1106683
context: Intergenic
pvalue_mlog: 7
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903300?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.


dbdate: 2014-08-01
author: Gottlieb DJ
date: 2007-09-19
journal: BMC Med Genet
study: Genome-wide association of sleep and circadian phenotypes.
trait: Sleep-related phenotypes
initial_samplesize: up to 738 individuals from 203 families
region: 3p22.1
chrom: 3
reported_genes: MYRIP
mapped_gene: MYRIP
snp_gene_ids: 25924
strongest_risk_snp: rs6599077
snps: rs6599077
snp_id_current: 6599077
context: intron
pvalue_mlog: 7
platform: Affymetrix [70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903308?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Hwang SJ
date: 2007-09-19
journal: BMC Med Genet
trait: Cystatin C
initial_samplesize: 981 individuals
region: 20p11.21
chrom: 20
reported_genes: CST9L, CST9, CST3
mapped_gene: CST9L - CST9
upstream_gene_id: 128821
downstream_gene_id: 128822
strongest_risk_snp: rs1158167
snps: rs1158167
snp_id_current: 1158167
context: Intergenic
pvalue_mlog: 8.045757490560675
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903292?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.


dbdate: 2008-11-25
author: Kiel DP
date: 2007-09-19
journal: BMC Med Genet
study: Genome-wide association with bone mass and geometry in the Framingham Heart Study.
trait: Bone mineral density
initial_samplesize: Up to 1,141 individuals from 241 families
region: 13q21.31
chrom: 13
reported_genes: Intergenic
mapped_gene: RPL32P28 - LINC00395
upstream_gene_id: 100133193
downstream_gene_id: 100874157
strongest_risk_snp: rs9317284
snps: rs9317284
snp_id_current: 9317284
context: Intergenic
pvalue_mlog: 6.698970004336019
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903296?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Larson MG
date: 2007-09-19
journal: BMC Med Genet
study: Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.
trait: Atrial fibrillation
initial_samplesize: 151 Other ancestry cases and 1,190 Other ancestry controls from 310 families
region: 13q14.13
chrom: 13
reported_genes: Intergenic
mapped_gene: LRRC63
snp_gene_ids: 220416
strongest_risk_snp: rs958546
snps: rs958546
snp_id_current: 958546
context: intron
pvalue_mlog: 5.301029995663981
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903304?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Levy D
date: 2007-09-19
journal: BMC Med Genet
trait: Blood pressure
initial_samplesize: Up to 1,327 Other ancestry individuals
region: 1p31.3
chrom: 1
reported_genes: Intergenic
mapped_gene: ATG4C - LINC00466
upstream_gene_id: 84938
downstream_gene_id: 199899
strongest_risk_snp: rs10493340
snps: rs10493340
snp_id_current: 10493340
context: Intergenic
pvalue_mlog: 5.698970004336018
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903302?ordinalpos=7&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.


dbdate: 2008-11-25
author: Lunetta KL
date: 2007-09-19
journal: BMC Med Genet
trait: Aging traits
initial_samplesize: 1,345 individuals from 330 families
region: 2p12
chrom: 2
reported_genes: Intergenic
mapped_gene: LRRTM1 - MTND4P25
upstream_gene_id: 347730
downstream_gene_id: 100873246
strongest_risk_snp: rs10496265
snps: rs10496265
snp_id_current: 10496265
context: Intergenic
pvalue_mlog: 8
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903295?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.


dbdate: 2008-11-25
author: Meigs JB
date: 2007-09-19
journal: BMC Med Genet
study: Genome-wide association with diabetes-related traits in the Framingham Heart Study.
trait: Diabetes (incident)
initial_samplesize: 91 cases, 1,083 controls
region: 2q32.3
chrom: 2
reported_genes: TMEFF2
mapped_gene: TMEFF2;LOC101927366
snp_gene_ids: 23671;101927366
strongest_risk_snp: rs10497721
snps: rs10497721
snp_id_current: 10497721
context: intron;intron
pvalue_mlog: 6.154901959985743
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903298?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Murabito JM
date: 2007-09-19
journal: BMC Med Genet
trait: Breast cancer
initial_samplesize: 58 cases, 665 controls
region: 17q21.33
chrom: 17
reported_genes: COL1A1
mapped_gene: COL1A1
snp_gene_ids: 1277
strongest_risk_snp: rs2075555
snps: rs2075555
snp_id_current: 2075555
context: intron
pvalue_mlog: 7.096910013008055
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903305?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.


dbdate: 2008-11-25
author: Newton-Cheh C
date: 2007-09-19
journal: BMC Med Genet
trait: Electrocardiographic traits
initial_samplesize: 1,951 European ancestry individuals from 355 families
region: 13q12.2
chrom: 13
reported_genes: RPL21
mapped_gene: RASL11A - GTF3A
upstream_gene_id: 387496
downstream_gene_id: 2971
strongest_risk_snp: rs10507380
snps: rs10507380
snp_id_current: 10507380
context: Intergenic
pvalue_mlog: 5.096910013008055
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903306?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.


dbdate: 2008-11-25
author: O'Donnell CJ
date: 2007-09-19
journal: BMC Med Genet
trait: Coronary artery calcification
initial_samplesize: Up to 678 individuals
region: 1p22.2
chrom: 1
reported_genes: Intergenic
mapped_gene: ZNF326 - BARHL2
upstream_gene_id: 284695
downstream_gene_id: 343472
strongest_risk_snp: rs2390582
snps: rs2390582
snp_id_current: 2390582
context: Intergenic
pvalue_mlog: 5.999999999999999
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903303?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.


dbdate: 2008-11-25
author: Seshadri S
date: 2007-09-19
journal: BMC Med Genet
trait: Cognitive test performance
initial_samplesize: 694 European ancestry individuals
region: 1p22.2
chrom: 1
reported_genes: Intergenic
mapped_gene: LMO4 - RPL36AP10
upstream_gene_id: 8543
downstream_gene_id: 100271140
strongest_risk_snp: rs2179965
snps: rs2179965
snp_id_current: 2179965
context: Intergenic
pvalue_mlog: 5.999999999999999
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903297?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.


dbdate: 2008-11-25
author: Vasan RS
date: 2007-09-19
journal: BMC Med Genet
trait: Echocardiographic traits
initial_samplesize: Up to 1,238 European ancestry individuals
region: 4p15.31
chrom: 4
reported_genes: SLIT2
mapped_gene: SLIT2
snp_gene_ids: 9353
strongest_risk_snp: rs1379659
snps: rs1379659
snp_id_current: 1379659
context: UTR-3
pvalue_mlog: 7
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903301?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.


dbdate: 2008-11-25
author: Wilk JB
date: 2007-09-19
journal: BMC Med Genet
study: Framingham Heart Study genome-wide association: results for pulmonary function measures.
trait: Pulmonary function
initial_samplesize: Up to 1,222 individuals
region: 15q11.2
chrom: 15
reported_genes: SNRPN
mapped_gene: SNRPN
snp_gene_ids: 6638
strongest_risk_snp: rs3867498
snps: rs3867498
snp_id_current: 3867498
context: intron
pvalue_mlog: 5.999999999999999
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903307?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Yang Q
date: 2007-09-19
journal: BMC Med Genet
trait: Factor VII
initial_samplesize: 886 European ancestry individuals
region: 7p22.2
chrom: 7
reported_genes: Intergenic
mapped_gene: RPL21P72 - FOXK1
upstream_gene_id: 100271181
downstream_gene_id: 221937
strongest_risk_snp: rs10488360
snps: rs10488360
snp_id_current: 10488360
context: Intergenic
pvalue_mlog: 5.154901959985742
platform: Affymetrix[70,897]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17903294?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.


dbdate: 2008-11-25
author: van Es MA
date: 2007-09-07
journal: Lancet Neurol
trait: Amyotrophic lateral sclerosis
initial_samplesize: 461 European ancestry cases, 450 European ancestry controls
replication_samplesize: 876 European ancestry cases, 906 European ancestry controls
region: 12p11.23
chrom: 12
reported_genes: ITPR2
mapped_gene: ITPR2
snp_gene_ids: 3709
strongest_risk_snp: rs2306677
snps: rs2306677
snp_id_current: 2306677
context: intron
pvalue_mlog: 5.522878745280337
ci_95: [1.30-1.91]
platform: Illumina[311,946]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17827064?ordinalpos=13&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.


dbdate: 2008-11-25
author: Plenge RM
date: 2007-09-05
journal: N Engl J Med
study: TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
trait: Rheumatoid arthritis
initial_samplesize: 1,522 European ancestry cases, 1,850 European ancestry controls
replication_samplesize: 1,053 European ancestry cases, 1,858 European ancestry controls
region: 9q33.2
chrom: 9
reported_genes: TRAF1-C5
mapped_gene: TRAF1
snp_gene_ids: 7185
strongest_risk_snp: rs3761847
strongest_risk_allele: G
snps: rs3761847
snp_id_current: 3761847
context: intron
pvalue_mlog: 13.39794000867204
ci_95: [1.23-1.42]
platform: Illumina [297,086]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17804836?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Raelson JV
date: 2007-09-05
journal: Proc Natl Acad Sci U S A
trait: Crohn's disease
initial_samplesize: 382 French Canadian founder trios
replication_samplesize: 750 European ancestry cases, 828 European ancestry controls, 521 Europeann ancestry trios
region: 16q12.1
chrom: 16
reported_genes: NOD2
mapped_gene: NOD2
snp_gene_ids: 64127
strongest_risk_snp: rs5743289
snps: rs5743289
snp_id_current: 5743289
context: intron
pvalue_mlog: 16.22184874961636
platform: Perlegen [164,279]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17804789?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.


dbdate: 2008-11-25
author: Menzel S
date: 2007-09-02
journal: Nat Genet
trait: F-cell distribution
initial_samplesize: 179 European ancestry individuals
replication_samplesize: 90 European ancestry individuals
region: 2p16.1
chrom: 2
reported_genes: BCL11A
mapped_gene: BCL11A
snp_gene_ids: 53335
strongest_risk_snp: rs1427407
snps: rs1427407
snp_id_current: 1427407
context: intron
pvalue_mlog: 30.22184874961636
ci_95: [NR] % of variance explained
platform: Illumina [308,015]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17767159?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.


dbdate: 2008-11-25
author: Weedon MN
date: 2007-09-02
journal: Nat Genet
study: A common variant of HMGA2 is associated with adult and childhood height in the general population.
trait: Height
initial_samplesize: 4,921 European ancestry individuals
replication_samplesize: 19,064 European ancestry adults, 6,827 European ancestry children
region: 12q14.3
chrom: 12
reported_genes: HMGA2
mapped_gene: HMGA2
snp_gene_ids: 8091
strongest_risk_snp: rs1042725
strongest_risk_allele: C
snps: rs1042725
snp_id_current: 1042725
context: UTR-3
pvalue_mlog: 15.22184874961635
ci_95: [NR] cm per copy in adult height
platform: Affymetrix [364,301]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17767157?ordinalpos=7&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Thorleifsson G
date: 2007-08-09
journal: Science
study: Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
trait: Glaucoma (exfoliation)
initial_samplesize: 75 European ancestry cases, 14,474 European ancestry controls
replication_samplesize: 199 European ancestry cases, 198 European ancestry controls
region: 15q24.1
chrom: 15
reported_genes: LOXL1
mapped_gene: LOXL1;LOXL1-AS1
snp_gene_ids: 4016;100287616
strongest_risk_snp: rs3825942
strongest_risk_allele: G
snps: rs3825942
snp_id_current: 3825942
context: missense;intron
pvalue_mlog: 20.52287874528034
ci_95: [10.80-37.41]
platform: Illumina [304,250]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17690259?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Franke A
date: 2007-08-08
journal: PLoS One
study: Systematic association mapping identifies NELL1 as a novel IBD disease gene.
trait: Crohn's disease
initial_samplesize: 393 European ancestry cases, 399 European ancestry controls
region: 16q12.1
chrom: 16
reported_genes: CARD15
mapped_gene: NOD2
snp_gene_ids: 64127
strongest_risk_snp: rs2076756
snps: rs2076756
snp_id_current: 2076756
context: intron
pvalue_mlog: 21
ci_95: [1.42-2.05]
platform: Affymetrix[92,387]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17684544?ordinalpos=6&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

replication_samplesize:
375 European ancestry trios, 1,395 European ancestry cases, 1,603 European ancestry controls, 454 French Canadian founder trios, 466 French Canadian founder cases, 358 French Canadian founder controls


dbdate: 2008-11-25
author: Maeda S
date: 2007-08-01
journal: Kidney Int Suppl
trait: Type 2 diabetes nephropathy
initial_samplesize: 94 Japanese ancestry cases, 94 Japanese ancestry controls
region: 7p14.2
chrom: 7
reported_genes: ELMO1
mapped_gene: ELMO1
snp_gene_ids: 9844
strongest_risk_snp: rs741301
snps: rs741301
snp_id_current: 741301
context: intron
pvalue_mlog: 5.096910013008055
ci_95: [1.71-4.16]
platform: NR[~80,000]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17653210?ordinalpos=6&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population.


dbdate: 2008-11-25
author: Shifman S
date: 2007-07-31
journal: Mol Psychiatry
study: A whole genome association study of neuroticism using DNA pooling.
trait: Neuroticism
initial_samplesize: 1,038 European ancestry cases, 1,016 European ancestry controls
replication_samplesize: 831 European ancestry cases, 702 European ancestry controls
region: 5q11.2
chrom: 5
reported_genes: PDE4D
mapped_gene: PDE4D
snp_gene_ids: 5144
strongest_risk_snp: rs702543
strongest_risk_allele: A
snps: rs702543
snp_id_current: 702543
context: intron
pvalue_mlog: 5.698970004336018
ci_95: [1.15-1.40]
platform: Affymetrix[452,574] (pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17667963?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Hafler DA
date: 2007-07-29
journal: N Engl J Med
study: Risk alleles for multiple sclerosis identified by a genomewide study.
trait: Multiple sclerosis
initial_samplesize: 931 European ancestry trios, 2,431 European ancestry controls
replication_samplesize: 609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls
region: 10p15.1
chrom: 10
reported_genes: IL2RA
mapped_gene: IL2RA
snp_gene_ids: 3559
strongest_risk_snp: rs12722489
strongest_risk_allele: C
snps: rs12722489
snp_id_current: 12722489
context: intron
pvalue_mlog: 7.522878745280337
ci_95: [1.11-1.36]
platform: Affymetrix[334,923]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17660530?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Scuteri A
date: 2007-07-20
journal: PLoS Genet
trait: Obesity-related traits
initial_samplesize: 4,741 Sardinia individuals
replication_samplesize: 3,205 African American, Hispanic, and European ancestry individuals
region: 16q12.2
chrom: 16
reported_genes: FTO
mapped_gene: FTO
snp_gene_ids: 79068
strongest_risk_snp: rs9930506
strongest_risk_allele: A
snps: rs9930506
snp_id_current: 9930506
context: intron
pvalue_mlog: 6.045757490560675
ci_95: [NR] SD lower (BMI)
platform: Affymetrix[362,129]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17658951?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.


dbdate: 2008-11-25
author: Stefansson H
date: 2007-07-19
journal: N Engl J Med
study: A genetic risk factor for periodic limb movements in sleep.
trait: Restless legs syndrome
initial_samplesize: 306 European ancestry cases, 15,664 European ancestry controls
replication_samplesize: 311 European ancestry cases, 1,895 European ancestry controls
region: 6p21.2
chrom: 6
reported_genes: BTBD9
mapped_gene: BTBD9
snp_gene_ids: 114781
strongest_risk_snp: rs3923809
strongest_risk_allele: A
snps: rs3923809
snp_id_current: 3923809
context: intron
pvalue_mlog: 17
ci_95: [1.50-2.20]
platform: Illumina[306,937]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17634447?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Samani NJ
date: 2007-07-18
journal: N Engl J Med
study: Genomewide association analysis of coronary artery disease.
trait: Coronary heart disease
initial_samplesize: 1,926 European ancestry cases, 2,938 European ancestry controls
replication_samplesize: 875 European ancestry cases, 1,644 European ancestry controls
region: 6q25.1
chrom: 6
reported_genes: MTHFD1L
mapped_gene: MTHFD1L
snp_gene_ids: 25902
strongest_risk_snp: rs6922269
strongest_risk_allele: A
snps: rs6922269
snp_id_current: 6922269
context: intron
pvalue_mlog: 7.522878745280337
ci_95: [1.15-1.33]
platform: Affymetrix [377,857]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17634449?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Winkelmann J
date: 2007-07-18
journal: Nat Genet
trait: Restless legs syndrome
initial_samplesize: 401 European ancestry cases, 1,644 European ancestry controls
region: 2p14
chrom: 2
reported_genes: MEIS1
mapped_gene: MEIS1
snp_gene_ids: 4211
strongest_risk_snp: rs2300478
strongest_risk_allele: G
snps: rs2300478
snp_id_current: 2300478
context: intron
pvalue_mlog: 27.52287874528033
ci_95: [1.57-1.92]
platform: Affymetrix[236,758]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17637780?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

replication_samplesize:
906 European ancestry cases, 891 European ancestry controls, 255 French Canadian cases, 287 French Canadian controls


dbdate: 2008-11-25
author: Buch S
date: 2007-07-15
journal: Nat Genet
trait: Gallstones
initial_samplesize: 280 European ancestry cases, 360 European ancestry controls
region: 2p21
chrom: 2
reported_genes: ABCG8
mapped_gene: ABCG5;ABCG8
snp_gene_ids: 64240;64241
strongest_risk_snp: rs11887534
strongest_risk_allele: C
snps: rs11887534
snp_id_current: 11887534
context: nearGene-5;missense
pvalue_mlog: 14
ci_95: [1.80-2.60]
platform: Affymetrix[382,492]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17632509?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

replication_samplesize:
1,833 European ancestry cases, 1,035 European ancestry controls, 167 Hispanic cases, 167 Hispanic controls


dbdate: 2008-11-25
author: Hakonarson H
date: 2007-07-15
journal: Nature
study: A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
trait: Type 1 diabetes
initial_samplesize: 467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls
replication_samplesize: 390 European ancestry trios, 1,333 European ancestry cases from 549 families
region: 16p13.13
chrom: 16
reported_genes: KIAA0350
mapped_gene: CLEC16A
snp_gene_ids: 23274
strongest_risk_snp: rs2903692
strongest_risk_allele: G
snps: rs2903692
snp_id_current: 2903692
context: intron
pvalue_mlog: 10.15490195998574
ci_95: [1.32-1.79]
platform: Illumina[543,071]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17632545?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Tomlinson I
date: 2007-07-08
journal: Nat Genet
trait: Colorectal cancer
initial_samplesize: 930 European ancestry cases, 960 European ancestry controls
replication_samplesize: 7,334 European ancestry cases, 5,246 European ancestry controls
region: 8q24.21
chrom: 8
reported_genes: Intergenic
mapped_gene: CCAT2;LOC101930033
snp_gene_ids: 101805488;101930033
strongest_risk_snp: rs6983267
strongest_risk_allele: G
snps: rs6983267
snp_id_current: 6983267
context: ncRNA;intron
pvalue_mlog: 14
ci_95: [1.16-1.39]
platform: Illumina[547,647]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17618284?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.


dbdate: 2008-11-25
author: Zanke BW
date: 2007-07-08
journal: Nat Genet
trait: Colorectal cancer
initial_samplesize: 1,257 Other ancestry cases, 1,336 Other ancestry controls
region: 8q24.21
chrom: 8
reported_genes: ORF DQ515897
mapped_gene: LOC101930033
snp_gene_ids: 101930033
strongest_risk_snp: rs10505477
strongest_risk_allele: A
snps: rs10505477
snp_id_current: 10505477
context: intron
pvalue_mlog: 10.52287874528034
ci_95: [1.12-1.23]
platform: Illumina and Affymetrix[99,632]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17618283?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

replication_samplesize:
5,084 European ancestry cases, 5,388 European ancestry controls, 1,139 Other ancestry cases, 1,055 European ancestry controls


dbdate: 2008-11-25
author: Gudbjartsson DF
date: 2007-07-01
journal: Nature
study: Variants conferring risk of atrial fibrillation on chromosome 4q25.
trait: Atrial fibrillation/atrial flutter
initial_samplesize: 550 European ancestry cases, 4,476 European ancestry controls
region: 4q25
chrom: 4
reported_genes: PITX2,ENPEP
mapped_gene: PITX2 - MIR297
upstream_gene_id: 5308
downstream_gene_id: 100126354
strongest_risk_snp: rs2200733
strongest_risk_allele: T
snps: rs2200733
snp_id_current: 2200733
context: Intergenic
pvalue_mlog: 40.52287874528033
ci_95: [1.59-1.86]
platform: Illumina[316,515]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17603472?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

replication_samplesize:
3,030 European ancestry cases, 14,780 European ancestry controls, 333 Han Chinese ancestry cases, 2,836 Han Chinese ancestry controls


dbdate: 2008-11-25
author: Gudmundsson J
date: 2007-07-01
journal: Nat Genet
trait: Prostate cancer
initial_samplesize: 1,501 European ancestry cases, 11,290 European ancestry controls
replication_samplesize: 1,992 European ancestry cases, 3,058 European ancestry controls
region: 17q12
chrom: 17
reported_genes: TCF2
mapped_gene: HNF1B
snp_gene_ids: 6928
strongest_risk_snp: rs4430796
strongest_risk_allele: A
snps: rs4430796
snp_id_current: 4430796
context: intron
pvalue_mlog: 11
ci_95: [1.15-1.30]
platform: Illumina[310,520]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17603485?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.


dbdate: 2008-11-25
author: Salonen JT
date: 2007-06-26
journal: Am J Hum Genet
study: Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.
trait: Type 2 diabetes
replication_samplesize: 2,573 European ancestry cases, 2,776 European ancestry controls
region: 10q25.2
chrom: 10
reported_genes: TCF7L2
mapped_gene: TCF7L2
snp_gene_ids: 6934
strongest_risk_snp: rs7903146
strongest_risk_allele: A
snps: rs7903146
snp_id_current: 7903146
context: intron
pvalue_mlog: 7.30102999566398
ci_95: [1.41-2.08]
platform: Illumina [315,917]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17668382?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

initial_samplesize:
201 Finland founder cases, 200 Finland founder controls, 200 Ashkenazi Jewish cases, 197 Ashkenazi Jewish controls, 99 European ancestry cases, 100 European ancestry controls


dbdate: 2008-11-25
author: van Heel DA
date: 2007-06-10
journal: Nat Genet
trait: Celiac disease
initial_samplesize: 778 European ancestry cases, 1,422 European ancestry controls
replication_samplesize: 991 European ancestry cases, 1,489 European ancestry controls
region: 4q27
chrom: 4
reported_genes: KIAA1109,TENR,IL2,IL21
mapped_gene: IL2 - IL21
upstream_gene_id: 3558
downstream_gene_id: 59067
strongest_risk_snp: rs6822844
strongest_risk_allele: G
snps: rs6822844
snp_id_current: 6822844
context: Intergenic
pvalue_mlog: 14
ci_95: [1.41-1.75]
platform: Illumina[310,605]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17558408?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.


dbdate: 2008-11-25
author: Reiman EM
date: 2007-06-07
journal: Neuron
study: GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.
trait: Alzheimer's disease (late onset)
initial_samplesize: 446 cases, 290 controls
replication_samplesize: 415 Other ancestry cases, 260 Other ancestry controls
region: 11q14.1
chrom: 11
reported_genes: GAB2
mapped_gene: GAB2
snp_gene_ids: 9846
strongest_risk_snp: rs2373115
strongest_risk_allele: G
snps: rs2373115
snp_id_current: 2373115
context: intron
pvalue_mlog: 10
ci_95: [2.81-14.69]
platform: Affymetrix[312,316]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17553421?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: WTCCC
date: 2007-06-07
journal: Nature
study: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
trait: Coronary heart disease
initial_samplesize: 1,926 European ancestry cases, 2,938 European ancestry controls
replication_samplesize: (see Samani 2007)
region: 9p21.3
chrom: 9
reported_genes: CDKN2A,CDKN2B
mapped_gene: UBA52P6 - DMRTA1
upstream_gene_id: 100130239
downstream_gene_id: 63951
strongest_risk_snp: rs1333049
strongest_risk_allele: C
snps: rs1333049
snp_id_current: 1333049
context: Intergenic
pvalue_mlog: 13
ci_95: [1.27-1.70]
platform: Affymetrix[469,557]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17554300?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Parkes M
date: 2007-06-06
journal: Nat Genet
trait: Crohn's disease
initial_samplesize: 1,748 cases, 2,938 controls
replication_samplesize: 1,182 European ancestry cases, 2,024 European ancestry controls
region: 1q31.2
chrom: 1
reported_genes: Intergenic
mapped_gene: HNRNPA1P46 - RGS18
upstream_gene_id: 100421399
downstream_gene_id: 64407
strongest_risk_snp: rs10801047
snps: rs10801047
snp_id_current: 10801047
context: Intergenic
pvalue_mlog: 7.522878745280337
ci_95: [1.22-1.76]
platform: see WTCCC
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17554261?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.


dbdate: 2008-11-25
author: Todd JA
date: 2007-06-06
journal: Nat Genet
study: Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
trait: Type 1 diabetes
initial_samplesize: 2,000 European ancestry cases, 3,000 European ancestry controls
replication_samplesize: 2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls
region: 12q24.13
chrom: 12
reported_genes: C12orf30
mapped_gene: NAA25
snp_gene_ids: 80018
strongest_risk_snp: rs17696736
strongest_risk_allele: G
snps: rs17696736
snp_id_current: 17696736
context: intron
pvalue_mlog: 15.69897000433602
ci_95: [1.15-1.28]
platform: Affymetrix
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17554260?ordinalpos=11&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Hunter DJ
date: 2007-05-27
journal: Nat Genet
trait: Breast cancer
initial_samplesize: 1,145 European ancestry cases, 1,142 European ancestry controls
region: 10q26.13
chrom: 10
reported_genes: FGFR2
mapped_gene: FGFR2
snp_gene_ids: 2263
strongest_risk_snp: rs1219648
strongest_risk_allele: G
snps: rs1219648
snp_id_current: 1219648
context: intron
pvalue_mlog: 10
ci_95: [1.07-1.42]
platform: Illumina[528,173]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17529973?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.

replication_samplesize:
874 European ancestry cases, 1,478 European ancestry controls, 302 Other ancestry cases, 594 Other ancestry controls


dbdate: 2008-11-25
author: Stacey SN
date: 2007-05-27
journal: Nat Genet
trait: Breast cancer
initial_samplesize: 1,599 European ancestry cases, 11,546 European ancestry controls
region: 2q35
chrom: 2
reported_genes: Intergenic
mapped_gene: TNP1 - DIRC3
upstream_gene_id: 7141
downstream_gene_id: 729582
strongest_risk_snp: rs13387042
strongest_risk_allele: A
snps: rs13387042
snp_id_current: 13387042
context: Intergenic
pvalue_mlog: 13
ci_95: [1.14-1.26]
platform: Illumina[311,524]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17529974?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.

replication_samplesize:
2,954 European ancestry cases, 5,967 European ancestry controls, Up to 561 Japanese ancestry cases, Up to 565 Japanese ancestry control, Up to 422 Afican American cases, Up to 448 African American controls, Up to 418 Hispanic cases, Up to 422 Hispanic controls, Up to 148 Other ancestry cases, Up to 293 Other ancestry controls


dbdate: 2008-11-25
author: Baum AE
date: 2007-05-08
journal: Mol Psychiatry
trait: Bipolar disorder
initial_samplesize: 461 European ancestry cases, 563 European ancestry controls
replication_samplesize: 772 European ancestry cases, 876 European ancestry controls
region: 13q14.11
chrom: 13
reported_genes: DGKH
mapped_gene: DGKH
snp_gene_ids: 160851
strongest_risk_snp: rs1012053
strongest_risk_allele: A
snps: rs1012053
snp_id_current: 1012053
context: intron
pvalue_mlog: 7.698970004336018
ci_95: [1.35-1.87]
platform: Illumina [555,235](pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17486107?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.


dbdate: 2008-11-25
author: Matarin M
date: 2007-05-06
journal: Lancet Neurol
trait: Stroke
initial_samplesize: 259 European ancestry cases, 269 European ancestry controls
region: 6q21
chrom: 6
reported_genes: AIM1
mapped_gene: AIM1
snp_gene_ids: 202
strongest_risk_snp: rs783396
snps: rs783396
snp_id_current: 783396
context: missense
pvalue_mlog: 5.045757490560675
ci_95: [1.47-3.13]
platform: Illumina[408,803]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17434096?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.


dbdate: 2008-11-25
author: Helgadottir A
date: 2007-05-03
journal: Science
study: A common variant on chromosome 9p21 affects the risk of myocardial infarction.
trait: Myocardial infarction
initial_samplesize: 1,607 European ancestry cases, 6,728 European ancestry controls
replication_samplesize: 2,980 European ancestry cases, 6,309 European ancestry controls
region: 9p21.3
chrom: 9
reported_genes: CDKN2A,CDKN2B
mapped_gene: UBA52P6 - DMRTA1
upstream_gene_id: 100130239
downstream_gene_id: 63951
strongest_risk_snp: rs10757278
strongest_risk_allele: G
snps: rs10757278
snp_id_current: 10757278
context: Intergenic
pvalue_mlog: 20
ci_95: [1.22-1.35]
platform: Illumina[305,953]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17478679?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2009-02-13
author: Saxena R
date: 2007-04-26
journal: Science
study: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
trait: Triglycerides
initial_samplesize: Up to 5,217 European ancestry individuals
region: 19q13.32
chrom: 19
reported_genes: APOE cluster
mapped_gene: APOC1
snp_gene_ids: 341
strongest_risk_snp: rs4420638
strongest_risk_allele: G
snps: rs4420638
snp_id_current: 4420638
context: nearGene-3
pvalue_mlog: 12.52287874528034
ci_95: % [NR] of variance explained
platform: Affymetrix [386,731]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17463246?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Scott LJ
date: 2007-04-26
journal: Science
trait: Type 2 diabetes
initial_samplesize: 1,161 European ancestry cases, 1,174 European ancestry controls
replication_samplesize: 1,215 European ancestry cases, 1,258 European ancestry controls
region: 11p12
chrom: 11
reported_genes: Intergenic
mapped_gene: RPL9P23 - HNRNPKP3
upstream_gene_id: 100131020
downstream_gene_id: 399881
strongest_risk_snp: rs9300039
strongest_risk_allele: C
snps: rs9300039
snp_id_current: 9300039
context: Intergenic
pvalue_mlog: 7.221848749616355
ci_95: [1.28-1.71]
platform: Illumina[315,635]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17463248?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.


dbdate: 2008-11-25
author: Steinthorsdottir V
date: 2007-04-26
journal: Nat Genet
study: A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.
trait: Type 2 diabetes
initial_samplesize: 1,399 European ancestry cases, 5,275 European ancestry controls
replication_samplesize: 2,174 European ancestry cases, 7,287 European ancestry controls
region: 6p22.3
chrom: 6
reported_genes: CDKAL1
mapped_gene: CDKAL1
snp_gene_ids: 54901
strongest_risk_snp: rs7756992
strongest_risk_allele: G
snps: rs7756992
snp_id_current: 7756992
context: intron
pvalue_mlog: 8.096910013008056
ci_95: [1.13-1.27]
platform: Illumina[313,179 SNPs; 339,846 2-SNP haplotypes]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17460697?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Zeggini E
date: 2007-04-26
journal: Science
study: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
trait: Type 2 diabetes
initial_samplesize: 1,924 European ancestry cases, 2,938 European ancestry controls
replication_samplesize: 3,757 European ancestry cases, 5,346 European ancestry controls
region: 11p15.1
chrom: 11
reported_genes: KCNJ11
mapped_gene: KCNJ11
snp_gene_ids: 3767
strongest_risk_snp: rs5215
strongest_risk_allele: C
snps: rs5215
snp_id_current: 5215
context: missense
pvalue_mlog: 10.30102999566398
ci_95: [1.10-1.19]
platform: Affymetrix[393,453]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17463249?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Rioux JD
date: 2007-04-15
journal: Nat Genet
trait: Crohn's disease
initial_samplesize: 946 Other ancestry cases, 977 Other ancestry controls
replication_samplesize: 530 Other ancestry trios, 353 Other ancestry cases, 207 Other ancestry controls
region: 2q37.1
chrom: 2
reported_genes: ATG16L1
mapped_gene: ATG16L1;SCARNA5
snp_gene_ids: 55054;677775
strongest_risk_snp: rs2241880
strongest_risk_allele: G
snps: rs2241880
snp_id_current: 2241880
context: missense;nearGene-5
pvalue_mlog: 13
ci_95: [1.27-1.64]
platform: Illumina[304,413]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17435756?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.


dbdate: 2008-11-25
author: Frayling TM
date: 2007-04-12
journal: Science
trait: Body mass index
initial_samplesize: 5,483 European ancestry type 2 diabetes cases, 5,174 European ancestry controls
replication_samplesize: 19,424 European ancestry adults, 10,172 European ancestry children
region: 16q12.2
chrom: 16
reported_genes: FTO
mapped_gene: FTO
snp_gene_ids: 79068
strongest_risk_snp: rs9939609
strongest_risk_allele: A
snps: rs9939609
snp_id_current: 9939609
context: intron
pvalue_mlog: 19.69897000433602
ci_95: [NR] kg/m2 per copy in adults
platform: Affymetrix[490,032]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17434869?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.


dbdate: 2008-11-25
author: Coon KD
date: 2007-04-01
journal: J Clin Psychiatry
trait: Alzheimer's disease (late onset)
initial_samplesize: 664 European ancestry cases, 422 European ancestry controls
region: 19q13.32
chrom: 19
reported_genes: APOE
mapped_gene: APOC1
snp_gene_ids: 341
strongest_risk_snp: rs4420638
snps: rs4420638
snp_id_current: 4420638
context: nearGene-3
pvalue_mlog: 38.99999999999999
ci_95: [NR]
platform: Affymetrix[~502,627]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17474819?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.


dbdate: 2008-11-25
author: Gudmundsson J
date: 2007-04-01
journal: Nat Genet
study: Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.
trait: Prostate cancer
initial_samplesize: 1,453 European ancestry cases, 3,064 European ancestry controls
region: 8q24.21
chrom: 8
reported_genes: Intergenic
mapped_gene: SRRM1P1 - CCAT1
upstream_gene_id: 401475
downstream_gene_id: 100507056
strongest_risk_snp: rs16901979
strongest_risk_allele: A
snps: rs16901979
snp_id_current: 16901979
context: Intergenic
pvalue_mlog: 12
ci_95: [1.53-2.11] (EA)
platform: Illumina[316,515]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17401366?ordinalpos=26&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

replication_samplesize:
1,210 European ancestry cases, 2,445 European ancestry controls; 373 African American cases, 372 African American controls


dbdate: 2008-11-25
author: Hanson RL
date: 2007-04-01
journal: Diabetes
trait: End-stage renal disease
initial_samplesize: 105 Pima Indian cases, 102 Pima indian controls
region: 8q24.21
chrom: 8
reported_genes: PVT1
mapped_gene: PVT1
snp_gene_ids: 5820
strongest_risk_snp: rs2648875
strongest_risk_allele: A
snps: rs2648875
snp_id_current: 2648875
context: intron
pvalue_mlog: 5.698970004336018
ci_95: [1.90-4.65]
platform: Affymetrix[115,352]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17395743?ordinalpos=8&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study.


dbdate: 2008-11-25
author: Yeager M
date: 2007-04-01
journal: Nat Genet
study: Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.
trait: Prostate cancer
initial_samplesize: 1,172 European ancestry cases, 1,157 European ancestry controls
replication_samplesize: 3,124 European ancestry cases, 3,142 European ancestry controls
region: 8q24.21
chrom: 8
reported_genes: Intergenic
mapped_gene: CCAT2;LOC101930033
snp_gene_ids: 101805488;101930033
strongest_risk_snp: rs6983267
strongest_risk_allele: G
snps: rs6983267
snp_id_current: 6983267
context: ncRNA;intron
pvalue_mlog: 12.04575749056067
ci_95: [1.13-1.41]
platform: Illumina[538,548]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17401363?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Lencz T
date: 2007-03-20
journal: Mol Psychiatry
study: Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.
trait: Schizophrenia
initial_samplesize: 178 European ancestry cases, 144 European ancestry controls
region: Xp22.33,Yp11.32
reported_genes: CSF2RA,IL3RA
strongest_risk_snp: rs4129148
strongest_risk_allele: C
snps: rs4129148
snp_id_current: 4129148
ci_95: [2.04-5.15]
platform: Affymetrix[439,511]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17522711?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Libioulle C
date: 2007-03-05
journal: PLoS Genet
link: http://www.ncbi.nlm.nih.gov/pubmed/17447842
trait: Crohn's disease
initial_samplesize: 547 European ancestry cases, 928 European ancestry controls
replication_samplesize: 1,266 European ancestry cases, 559 European ancestry controls, Up to 428 European ancestry trios
region: 5p13.1
chrom: 5
reported_genes: Intergenic
mapped_gene: LINC00603 - PTGER4
upstream_gene_id: 102467077
downstream_gene_id: 5734
strongest_risk_snp: rs1373692
snps: rs1373692
snp_id_current: 1373692
context: Intergenic
pvalue_mlog: 11.69897000433602
ci_95: [NR]
platform: Illumina[302,451]
cnv: N
study:
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.


dbdate: 2008-11-25
author: Schymick JC
date: 2007-02-20
journal: Lancet Neurol
trait: Amyotrophic lateral sclerosis
initial_samplesize: 276 European ancestry cases, 271 European ancestry controls
region: 10q26.2
chrom: 10
reported_genes: Intergenic
mapped_gene: FAM196A - NPS
upstream_gene_id: 642938
downstream_gene_id: 594857
strongest_risk_snp: rs4363506
snps: rs4363506
snp_id_current: 4363506
context: Intergenic
pvalue_mlog: 6.154901959985743
ci_95: [1.50-2.40]
platform: Illumina[549,062]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17362836?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.


dbdate: 2008-11-25
author: Sladek R
date: 2007-02-11
journal: Nature
study: A genome-wide association study identifies novel risk loci for type 2 diabetes.
trait: Type 2 diabetes
initial_samplesize: 661 European ancestry cases, 614 European ancestry controls
replication_samplesize: 2,617 European ancestry cases, 2,894 European ancestry controls
region: 10q23.33
chrom: 10
reported_genes: HHEX
mapped_gene: HHEX - EXOC6
upstream_gene_id: 3087
downstream_gene_id: 54536
strongest_risk_snp: rs1111875
strongest_risk_allele: G
snps: rs1111875
snp_id_current: 1111875
context: Intergenic
pvalue_mlog: 5.522878745280337
ci_95: [0.82-1.56]
platform: Illumina [392,935]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17293876?ordinalpos=24&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Bierut LJ
date: 2006-12-07
journal: Hum Mol Genet
study: Novel genes identified in a high-density genome wide association study for nicotine dependence.
trait: Nicotine dependence
initial_samplesize: 482 European ancestry cases, 466 European ancestry controls
replication_samplesize: 568 European ancestry cases, 413 European ancestry controls
region: 21q22.2
chrom: 21
mapped_gene: LOC102724740
snp_gene_ids: 102724740
strongest_risk_snp: rs2836823
strongest_risk_allele: T
snps: rs2836823
snp_id_current: 2836823
context: intron
pvalue_mlog: 5.698970004336018
ci_95: [1.23-1.73]
platform: Perlegen[2.4 million] (pooled)
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17158188?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Duerr RH
date: 2006-10-26
journal: Science
study: A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
trait: Inflammatory bowel disease
initial_samplesize: 547 European ancestry cases, 548 European ancestry controls
replication_samplesize: 1,151 Other ancestry cases from 595 families, 433 Other ancestry controls
region: 16q12.1
chrom: 16
reported_genes: CARD15
mapped_gene: NOD2
snp_gene_ids: 64127
strongest_risk_snp: rs2076756
snps: rs2076756
snp_id_current: 2076756
context: intron
pvalue_mlog: 9.301029995663981
platform: Illumina[308,332]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17068223?ordinalpos=8&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Dewan A
date: 2006-10-19
journal: Science
study: HTRA1 promoter polymorphism in wet age-related macular degeneration.
trait: Age-related macular degeneration (wet)
initial_samplesize: 96 Southeast Asian ancestry cases, 130 Southeast Asian ancestry controls
region: 10q26.13
chrom: 10
reported_genes: HTRA1
mapped_gene: HTRA1
snp_gene_ids: 5654
strongest_risk_snp: rs11200638
strongest_risk_allele: A
snps: rs11200638
snp_id_current: 11200638
context: nearGene-5
pvalue_mlog: 11.09691001300806
ci_95: [0.71-3.61]
platform: Affymetrix[97,824]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17053108?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


dbdate: 2008-11-25
author: Fung HC
date: 2006-09-28
journal: Lancet Neurol
trait: Parkinson's disease
initial_samplesize: 267 European ancestry cases, 270 European ancestry controls
region: 11q14.1
chrom: 11
reported_genes: DLG2
mapped_gene: DLG2
snp_gene_ids: 1740
strongest_risk_snp: rs10501570
snps: rs10501570
snp_id_current: 10501570
context: intron
pvalue_mlog: 5.154901959985742
ci_95: [2.00-12.50]
platform: Illumina[408,803]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/17052657?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

study:
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.


dbdate: 2008-11-25
author: Arking DE
date: 2006-04-30
journal: Nat Genet
study: A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.
trait: QT interval
initial_samplesize: 100 European ancestry females > 445ms, 100 European ancestry females < 386ms
region: 1q23.3
chrom: 1
reported_genes: NOS1AP
mapped_gene: NOS1AP
snp_gene_ids: 9722
strongest_risk_snp: rs10494366
snps: rs10494366
snp_id_current: 10494366
context: intron
pvalue_mlog: 10
ci_95: - 7.90 [NR] msec difference between homozygotes
platform: Affymetrix [88,500]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/16648850?ordinalpos=10&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

replication_samplesize:
200 European ancestry females > 85th pct, 200 European ancestry females < 15th pct, 4,451 European ancestry individuals


dbdate: 2008-11-25
author: Maraganore DM
date: 2005-09-09
journal: Am J Hum Genet
study: High-resolution whole-genome association study of Parkinson disease.
trait: Parkinson's disease
region: 5p15.31
chrom: 5
reported_genes: SEMA5A
mapped_gene: SEMA5A
snp_gene_ids: 9037
strongest_risk_snp: rs7702187
snps: rs7702187
snp_id_current: 7702187
context: intron
pvalue_mlog: 5.096910013008055
ci_95: [1.36-2.24]
platform: Perlegen [198,345]
cnv: N
link:
http://www.ncbi.nlm.nih.gov/pubmed/16252231?ordinalpos=6&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

initial_samplesize:
381 European ancestry cases, 363 European ancestry controls, 62 Other ancestry cases,79 Other ancestry controls, 1 Asian ancestry control from 443 sibships

replication_samplesize:
269 European ancestry cases, 272 European ancestry controls, 62 Other ancestry cases, 60 Other ancesty controls, 1 Asian ancestry case


