Meta-analysis identifies four new loci associated with testicular germ cell tumor

被引：138

作者：

Chung, Charles C. ^{[1
,2
]}

Kanetsky, Peter A. ^{[3
,4
]}

Wang, Zhaoming ^{[1
,2
]}

Hildebrandt, Michelle A. T. ^{[5
]}

Koster, Roelof ^{[6
]}

Skotheim, Rolf I. ^{[7
,8
]}

Kratz, Christian P. ^{[1
]}

Turnbull, Clare ^{[9
]}

Cortessis, Victoria K. ^{[10
]}

Bakken, Anne C. ^{[7
,8
]}

Bishop, D. Timothy ^{[11
]}

Cook, Michael B. ^{[1
]}

Erickson, R. Loren ^{[12
]}

Fossa, Sophie D. ^{[13
]}

Jacobs, Kevin B. ^{[1
,2
]}

Korde, Larissa A. ^{[1
,14
]}

Kraggerud, Sigrid M. ^{[7
,8
]}

Lothe, Ragnhild A. ^{[7
,8
]}

Loud, Jennifer T. ^{[1
]}

Rahman, Nazneen ^{[9
]}

Skinner, Eila C. ^{[15
]}

Thomas, Duncan C. ^{[10
]}

Wu, Xifeng ^{[5
]}

Yeager, Meredith ^{[1
,2
]}

Schumacher, Fredrick R. ^{[10
]}

Greene, Mark H. ^{[1
]}

Schwartz, Stephen M. ^{[16
,17
]}

McGlynn, Katherine A. ^{[1
]}

Chanock, Stephen J. ^{[1
]}

Nathanson, Katherine L. ^{[3
,6
]}

机构：

[1] NCI, Div Canc Epidemiol & Genet, US Natl Inst Hlth, US Dept HHS, Bethesda, MD 20892 USA

[2] NCI Frederick, Canc Genome Res Lab, Div Canc Epidemiol & Genet, SAIC Frederick, Frederick, MD USA

[3] Univ Penn, Dept Biostat & Epidemiol, Perelman Sch Med, Philadelphia, PA 19104 USA

[4] Univ Penn, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA

[5] Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA

[6] Univ Penn, Perelman Sch Med, Dept Med Translat Med & Human Genet, Philadelphia, PA 19104 USA

[7] Oslo Univ Hosp, Inst Canc Res, Dept Canc Prevent, Norwegian Radium Hosp, Oslo, Norway

[8] Univ Oslo, Fac Med, Ctr Canc Biomed, Oslo, Norway

[9] Inst Canc Res, Div Genet & Epidemiol, Sutton, Surrey, England

[10] Univ So Calif, Keck Sch Med, Dept Prevent Med, Norris Comprehens Canc Ctr, Los Angeles, CA 90033 USA

[11] St James Univ Hosp, Leeds Inst Mol Med, Sect Epidemiol & Biostat, Canc Res UK Clin Ctr Leeds, Leeds, W Yorkshire, England

[12] Walter Reed Army Inst Res, Silver Spring, MD USA

[13] Univ Oslo, Dept Oncol, Norwegian Radium Hosp, Oslo Univ Hosp, Oslo, Norway

[14] Univ Washington, Div Med Oncol, Seattle Canc Care Alliance, Seattle, WA 98195 USA

[15] Stanford Univ, Dept Urol, Stanford, CA 94305 USA

[16] Univ Washington, Fred Hutchinson Canc Res Ctr, Seattle, WA 98195 USA

[17] Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA

来源：

NATURE GENETICS | 2013年 / 45卷 / 06期

基金：

美国国家卫生研究院; 英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; MIXED LINEAGE KINASE; MARIJUANA USE; LINKAGE DISEQUILIBRIUM; DOMAIN-LIKE; CANCER; PROTEIN; BREAST; RISK; SUSCEPTIBILITY;

D O I：

10.1038/ng.2634

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We conducted a meta-analysis to identify new susceptibility loci for testicular germ cell tumor (TGCT). In the discovery phase, we analyzed 931 affected individuals and 1,975 controls from 3 genome-wide association studies (GWAS). We conducted replication in 6 independent sample sets comprising 3,211 affected individuals and 7,591 controls. In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 x 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 x 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 x 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 x 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 x 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. These new TGCT susceptibility loci contain biologically plausible genes encoding proteins important for male germ cell development, chromosomal segregation and the DNA damage response.

引用

页码：680 / +

页数：7

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