Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

被引：271

作者：

Turnbull, Clare ^{[1
]}

Rapley, Elizabeth A. ^{[1
]}

Seal, Sheila ^{[1
]}

Pernet, David ^{[1
]}

Renwick, Anthony ^{[1
]}

Hughes, Deborah ^{[1
]}

Ricketts, Michelle ^{[1
]}

Linger, Rachel ^{[1
]}

Nsengimana, Jeremie ^{[2
]}

Deloukas, Panagiotis ^{[3
]}

Huddart, Robert A. ^{[4
]}

Bishop, D. Timothy ^{[2
]}

Easton, Douglas F. ^{[5
]}

Stratton, Michael R. ^{[1
,3
]}

Rahman, Nazneen ^{[1
]}

机构：

[1] Inst Canc Res, Sect Canc Genet, Surrey, England

[2] Leeds Inst Mol Med, Epidemiol & Biostat Sect, Leeds, W Yorkshire, England

[3] Wellcome Trust Sanger Inst, Hinxton, England

[4] Inst Canc Res, Acad Radiotherapy Unit, Sutton, Surrey, England

[5] Strangeways Res Lab, Genet Epidemiol Unit, Canc Res UK, Cambridge CB1 4RN, England

来源：

NATURE GENETICS | 2010年 / 42卷 / 07期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; LUNG-CANCER; TELOMERE DYSFUNCTION; SUSCEPTIBILITY LOCI; SEX REVERSAL; 5P15.33; TUMORS; RISK; GENE; INSTABILITY;

D O I：

10.1038/ng.607

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We conducted a genome-wide association study for testicular germ cell tumor, genotyping 298,782 SNPs in 979 affected individuals and 4,947 controls from the UK and replicating associations in a further 664 cases and 3,456 controls. We identified three new susceptibility loci, two of which include genes that are involved in telomere regulation. We identified two independent signals within the TERT-CLPTM1L locus on chromosome 5, which has previously been associated with multiple other cancers (rs4635969, OR = 1.54, P = 1.14 x 10(-23); rs2736100, OR = 1.33, P = 7.55 x 10(-15)). We also identified a locus on chromosome 12 (rs2900333, OR = 1.27, P = 6.16 x 10(-10)) that contains ATF7IP, a regulator of TERT expression. Finally, we identified a locus on chromosome 9 (rs755383, OR = 1.37, P = 1.12 x 10(-23)), containing the sex determination gene DMRT1, which has been linked to teratoma susceptibility in mice.

引用

页码：604 / U178

页数：5

共 30 条

[1] Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA [J].