Meta-analysis identifies four new loci associated with testicular germ cell tumor.
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
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DOI：
10.1038/ng.2634
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发表时间：
2013-06
期刊：
影响因子：
30.8
通讯作者：
Nathanson, Katherine L.
中科院分区：
文献类型：
--
作者：
Chung, Charles C.;Kanetsky, Peter A.;Wang, Zhaoming;Hildebrandt, Michelle A. T.;Koster, Roelof;Skotheim, Rolf I.;Kratz, Christian P.;Turnbull, Clare;Cortessis, Victoria K.;Bakken, Anne C.;Bishop, D. Timothy;Cook, Michael B.;Erickson, R. Loren;Fossa, Sophie D.;Jacobs, Kevin B.;Korde, Larissa A.;Kraggerud, Sigrid M.;Lothe, Ragnhild A.;Loud, Jennifer T.;Rahman, Nazneen;Skinner, Eila C.;Thomas, Duncan C.;Wu, Xifeng;Yeager, Meredith;Schumacher, Fredrick R.;Greene, Mark H.;Schwartz, Stephen M.;McGlynn, Katherine A.;Chanock, Stephen J.;Nathanson, Katherine L.
我们进行了一项荟萃分析，以确定睾丸生殖细胞肿瘤（TGCT）易感性的新位点。在发现阶段，分析了来自三个全基因组关联研究（GWAS）的931名受影响个体和1，975名对照。在6个独立的样本组中进行了复制，共计3，211名受影响的个体和7，591名对照。在联合分析中，TGCT风险与四个新位点的标记物显著相关：HPGDS中的4q22.2（每个等位基因比值比（OR）1.19，95%CI 1.12-1.26，P = 1.11×10−8）; MAD 1 L1中7p22.3（OR 1.21，95%CI 1.14-1.29，P = 5.59×10−9）; RFWD 3中16q22.3（OR 1.26，95%CI 1.18-1.34，P = 5.15×10−12）;和17 q22（rs 9905704; OR 1.27，95%CI 1.18-1.33; P = 4.32×10−13，和rs7221274; OR 1.20，95%CI 1.12-1.28 P = 4.04×10−9），一个包括TEX 14、RAD 51 C和PPM 1 E的基因座。新的TGCT易感基因座包含生物学上合理的基因，编码对雄性生殖细胞发育、染色体分离和DNA损伤反应重要的蛋白质。
We conducted a meta-analysis to identify new loci for testicular germ cell tumor (TGCT) susceptibility. In the discovery phase, 931 affected individuals and 1,975 controls from three genome wide association studies (GWAS) were analyzed. Replication was conducted in six independent sample sets totaling 3,211 affected individuals and 7,591 controls. In the combined analysis, TGCT risk was significantly associated with markers at four novel loci: 4q22.2 in HPGDS (per allele odds ratio (OR) 1.19, 95%CI 1.12–1.26, P = 1.11×10−8); 7p22.3 in MAD1L1 (OR 1.21, 95%CI 1.14–1.29, P = 5.59×10−9); 16q22.3 in RFWD3 (OR 1.26, 95%CI 1.18–1.34, P = 5.15×10−12); and 17q22 (rs9905704; OR 1.27, 95%CI 1.18–1.33; P = 4.32×10−13, and rs7221274; OR 1.20, 95%CI 1.12–1.28 P = 4.04×10−9), a locus which includes TEX14, RAD51C and PPM1E. The new TGCT susceptibility loci contain biologically plausible genes encoding proteins important for male germ cell development, chromosomal segregation and DNA damage response.
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影响因子：
3.9
作者：
Ferlin, Alberto;Pengo, Manuel;Foresta, Carlo
通讯作者：
Foresta, Carlo
影响因子：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
影响因子：
64.8
作者：
Costelloe, Thomas;Louge, Raphael;Tomimatsu, Nozomi;Mukherjee, Bipasha;Martini, Emmanuelle;Khadaroo, Basheer;Dubois, Kenny;Wiegant, Wouter W.;Thierry, Agnes;Burma, Sandeep;van Attikum, Haico;Llorente, Bertrand
通讯作者：
Llorente, Bertrand
影响因子：
6.4
作者：
Czene, K;Lichtenstein, P;Hemminki, K
通讯作者：
Hemminki, K
影响因子：
30.8
作者：
Avela, K;Lipsanen-Nyman, M;Lehesjoki, AE
通讯作者：
Lehesjoki, AE