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Updated Field Synopsis and Systematic Meta-Analyses of Genetic Association Studies in Cutaneous Melanoma: The MelGene Database

机译:皮肤黑色素瘤的遗传关联研究的最新领域简介和系统荟萃分析:MelGene数据库

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We updated a field synopsis of genetic associations of cutaneous melanoma (CM) by systematically retrieving and combining data from all studies in the field published as of August 31, 2013. Data were available from 197 studies, which included 83,343 CM cases and 187,809 controls and reported on 1,126 polymorphisms in 289 different genes. Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data sets confirmed 20 single-nucleotide polymorphisms across 10 loci (TYR, AFG3L1P, CDK10, MYH7B, SLC45A2, MTAP, ATM, CLPTM1L, FTO, and CASP8) that have previously been published with genome-wide significant evidence for association (P<5 x 10(-8)) with CM risk, with certain variants possibly functioning as proxies of already tagged genes. Four other loci (MITF, CCND1, MX2, and PLA2G6) were also significantly associated with 5 x 10-8
机译:我们通过系统地检索和合并截至2013年8月31日发表的该领域所有研究的数据,更新了皮肤黑素瘤(CM)遗传关联的领域概要。数据可从197个研究中获得,其中包括83,343个CM病例和187,809个对照和报道了289个不同基因的1,126个多态性。在> 4个数据集中评估的81个合格多态性的随机效应荟萃分析证实了10个位点(TYR,AFG3L1P,CDK10,MYH7B,SLC45A2,MTAP,ATM,CLPTM1L,FTO和CASP8)的20个单核苷酸多态性已发表的全基因组显着证据表明与CM风险相关(P <5 x 10(-8)),某些变体可能充当已标记基因的代理。其他四个基因座(MITF,CCND1,MX2和PLA2G6)也与5 x 10-8

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