Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
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我们进行了一项全基因组关联研究，对来自英国的979例病例和4947例对照的298,782个snp进行基因分型，并在另外664例病例和3456例对照中复制了关联。我们确定了三个新的易感位点，其中两个包括参与端粒调控的基因。我们在5号染色体上的TERT-CLPTM1L位点内发现了两个与多种其他癌症相关的独立信号（rs4635969， OR=1.54 （95%CI 1.33-1.79)， P=1.14×10−23）和rs2736100， OR 1.33 (1.18-1.50)， P=7.55 ×10−15）。我们还在12号染色体上发现了一个含有ATF7IP的位点（rs2900333， OR=1.27 (95%CI 1.12-1.44)， P=6.16×10−10），ATF7IP是TERT表达的调节因子。最后，我们在9号染色体（rs755383， OR=1.37 (95%CI 1.21-1.55)， P=1.12×10−23）上发现了一个含有性别决定基因DMRT1的位点，该基因与小鼠畸胎瘤易感性有关。
We conducted a genome-wide association study for testicular germ cell tumor genotyping 298,782 SNPs in 979 cases and 4,947 controls from the UK and replicating associations in a further 664 cases and 3,456 controls. We identified three novel 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 been associated with multiple other cancers (rs4635969, OR=1.54 (95%CI 1.33-1.79), P=1.14×10−23 and rs2736100, OR 1.33 (1.18-1.50) P=7.55 ×10−15). We also identified a locus on chromosome 12 (rs2900333, OR=1.27 (95%CI 1.12-1.44), P=6.16×10−10) that contains ATF7IP, a regulator of TERT expression. Finally we identified a locus on chromosome 9 (rs755383, OR=1.37 (95%CI 1.21-1.55), P=1.12×10−23) containing the sex determination gene DMRT1, which has been linked with teratoma susceptibility in mice.
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影响因子：
30.8
作者：
Shete S;Hosking FJ;Robertson LB;Dobbins SE;Sanson M;Malmer B;Simon M;Marie Y;Boisselier B;Delattre JY;Hoang-Xuan K;El Hallani S;Idbaih A;Zelenika D;Andersson U;Henriksson R;Bergenheim AT;Feychting M;Lönn S;Ahlbom A;Schramm J;Linnebank M;Hemminki K;Kumar R;Hepworth SJ;Price A;Armstrong G;Liu Y;Gu X;Yu R;Lau C;Schoemaker M;Muir K;Swerdlow A;Lathrop M;Bondy M;Houlston RS
通讯作者：
Houlston RS
影响因子：
30.8
作者：
McKay, James D.;Hung, Rayjean J.;Gaborieau, Valerie;Boffetta, Paolo;Chabrier, Amelie;Byrnes, Graham;Zaridze, David;Mukeria, Anush;Szeszenia-Dabrowska, Neonilia;Lissowska, Jolanta;Rudnai, Peter;Fabianova, Eleonora;Mates, Dana;Bencko, Vladimir;Foretova, Lenka;Janout, Vladimir;McLaughlin, John;Shepherd, Frances;Montpetit, Alexandre;Narod, Steven;Krokan, Hans E.;Skorpen, Frank;Elvestad, Maiken Bratt;Vatten, Lars;Njolstad, Inger;Axelsson, Tomas;Chen, Chu;Goodman, Gary;Barnett, Matt;Loomis, Melissa M.;Lubinski, Jan;Matyjasik, Joanna;Lener, Marcin;Oszutowska, Dorota;Field, John;Liloglou, Triantafillos;Xinarianos, George;Cassidy, Adrian;Zelenika, Diana;Boland, Anne;Delepine, Marc;Foglio, Mario;Lechner, Doris;Matsuda, Fumihiko;Blanche, Helene;Gut, Ivo;Heath, Simon;Lathrop, Mark;Brennan, Paul
通讯作者：
Brennan, Paul
影响因子：
3.8
作者：
Schrader M;Burger AM;Müller M;Krause H;Straub B;Schostak M;Schulze W;Lauke H;Miller K
通讯作者：
Miller K
影响因子：
4.8
作者：
Liu, Lifeng;Ishihara, Ko;Nakao, Mitsuyoshi
通讯作者：
Nakao, Mitsuyoshi
影响因子：
64.5
作者：
Hackett, JA;Feldser, DM;Greider, CW
通讯作者：
Greider, CW