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Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.
Nature Genetics ( IF 30.8 ) Pub Date : 2017-Jul-01 , DOI: 10.1038/ng.3879
Zhaoming Wang 1 , Katherine A McGlynn 1 , Ewa Rajpert-De Meyts 2 , D Timothy Bishop 3 , Charles C Chung 1 , Marlene D Dalgaard 2, 4 , Mark H Greene 1 , Ramneek Gupta 4 , Tom Grotmol 5 , Trine B Haugen 6 , Robert Karlsson 7 , Kevin Litchfield 8 , Nandita Mitra 9 , Kasper Nielsen 4 , Louise C Pyle 10, 11 , Stephen M Schwartz 12 , Vésteinn Thorsson 13 , Saran Vardhanabhuti 14 , Fredrik Wiklund 7 , Clare Turnbull 8, 15 , Stephen J Chanock 1 , Peter A Kanetsky 16 , Katherine L Nathanson 10, 17 ,
Affiliation  

The international Testicular Cancer Consortium (TECAC) combined five published genome-wide association studies of testicular germ cell tumor (TGCT; 3,558 cases and 13,970 controls) to identify new susceptibility loci. We conducted a fixed-effects meta-analysis, including, to our knowledge, the first analysis of the X chromosome. Eight new loci mapping to 2q14.2, 3q26.2, 4q35.2, 7q36.3, 10q26.13, 15q21.3, 15q22.31, and Xq28 achieved genome-wide significance (P < 5 × 10-8). Most loci harbor biologically plausible candidate genes. We refined previously reported associations at 9p24.3 and 19p12 by identifying one and three additional independent SNPs, respectively. In aggregate, the 39 independent markers identified to date explain 37% of father-to-son familial risk, 8% of which can be attributed to the 12 new signals reported here. Our findings substantially increase the number of known TGCT susceptibility alleles, move the field closer to a comprehensive understanding of the underlying genetic architecture of TGCT, and provide further clues to the etiology of TGCT.

中文翻译:

五项全基因组关联研究的荟萃分析确定了与睾丸生殖细胞肿瘤相关的多个新基因座。

国际睾丸癌联盟 (TECAC) 结合了五项已发表的睾丸生殖细胞肿瘤全基因组关联研究 (TGCT;3,558 例病例和 13,970 例对照),以确定新的易感位点。我们进行了固定效应荟萃分析,据我们所知,包括对 X 染色体的首次分析。8 个新位点映射到 2q14.2、3q26.2、4q35.2、7q36.3、10q26.13、15q21.3、15q22.31 和 Xq28 获得全基因组显着性(P < 5 × 10 -8)。大多数基因座具有生物学上合理的候选基因。我们通过分别识别一个和三个额外的独立 SNP 来细化先前报道的 9p24.3 和 19p12 ​​的关联。总的来说,迄今为止确定的 39 个独立标记解释了 37% 的父子关系风险,其中 8% 可归因于此处报告的 12 个新信号。我们的研究结果显着增加了已知 TGCT 易感性等位基因的数量,使该领域更接近于全面了解 TGCT 的潜在遗传结构,并为 TGCT 的病因学提供进一步的线索。
更新日期:2017-06-29
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