Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23

被引：55

作者：

Schumacher, Fredrick R. ^{[1
]}

Wang, Zhaoming ^{[2
,3
]}

Skotheim, Rolf I. ^{[4
,5
]}

Koster, Roelof ^{[6
]}

Chung, Charles C. ^{[2
]}

Hildebrandt, Michelle A. T. ^{[9
]}

Kratz, Christian P. ^{[10
]}

Bakken, Anne C. ^{[4
,5
]}

Bishop, D. Timothy ^{[11
]}

Cook, Michael B. ^{[2
]}

Erickson, R. Loren ^{[12
]}

Fossa, Sophie D. ^{[13
]}

Greene, Mark H. ^{[2
]}

Jacobs, Kevin B. ^{[2
,3
]}

Kanetsky, Peter A. ^{[7
,8
]}

Kolonel, Laurence N. ^{[14
]}

Loud, Jennifer T. ^{[2
]}

Korde, Larissa A. ^{[2
,15
]}

Le Marchand, Loic ^{[14
]}

Lewinger, Juan Pablo ^{[1
]}

Lothe, Ragnhild A. ^{[4
,5
]}

Pike, Malcolm C. ^{[16
]}

Rahman, Nazneen ^{[17
]}

Rubertone, Mark V. ^{[18
]}

Schwartz, Stephen M. ^{[19
,20
]}

Siegmund, Kimberly D. ^{[1
]}

Skinner, Eila C. ^{[21
]}

Turnbull, Clare ^{[17
]}

Van den Berg, David J. ^{[1
]}

Wu, Xifeng ^{[9
]}

Yeager, Meredith ^{[2
,3
]}

Nathanson, Katherine L. ^{[6
]}

Chanock, Stephen J. ^{[2
]}

Cortessis, Victoria K. ^{[1
]}

McGlynn, Katherine A. ^{[2
]}

机构：

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

[2] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA

[3] NCI Frederick, Canc Genome Res Lab, Div Canc Epidemiol & Genet, Adv Technol Program,SAIC Frederick Inc, Frederick, MD USA

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

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

[6] Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA

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

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

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

[10] Hannover Med Sch, Dept Pediat Hematol & Oncol, Ctr Pediat & Adolescent Med, Hannover, Germany

[11] St James Univ Hosp, Canc Res UK Clin Ctr Leeds, Leeds Inst Mol Med, Epidemiol & Biostat Sect, Leeds LS9 7TF, W Yorkshire, England

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

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

[14] Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI 96822 USA

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

[16] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA

[17] Inst Canc Res, Div Canc Genet, Sutton, Surrey, England

[18] USA, Ctr Hlth Promot & Prevent Med, Silver Spring, MD USA

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

[20] Univ Washington, Sch Publ Hlth, Seattle, WA 98195 USA

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

来源：

HUMAN MOLECULAR GENETICS | 2013年 / 22卷 / 13期

基金：

美国国家卫生研究院;

关键词：

CANCER; RISK; GENES; POLYMORPHISMS; METABOLISM; EXPRESSION; VARIANTS; RECEPTOR; URIDINE; TRENDS;

D O I：

10.1093/hmg/ddt109

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Genome-wide association studies (GWASs) have identified multiple common genetic variants associated with an increased risk of testicular germ cell tumors (TGCTs). A previous GWAS reported a possible TGCT susceptibility locus on chromosome 1q23 in the UCK2 gene, but failed to reach genome-wide significance following replication. We interrogated this region by conducting a meta-analysis of two independent GWASs including a total of 940 TGCT cases and 1559 controls for 122 single-nucleotide polymorphisms (SNPs) on chromosome 1q23 and followed up the most significant SNPs in an additional 2202 TGCT cases and 2386 controls from four casecontrol studies. We observed genome-wide significant associations for several UCK2 markers, the most significant of which was for rs3790665 (P-Combined 6.0 10(9)). Additional support is provided from an independent familial study of TGCT where a significant over-transmission for rs3790665 with TGCT risk was observed (P-FBAT 2.3 10(3)). Here, we provide substantial evidence for the association between UCK2 genetic variation and TGCT risk.

引用

页码：2748 / 2753

页数：6

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