七个前列腺癌易感性位点通过多阶段全基因组关联研究确定。
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
机构信息
The Institute of Cancer Research, Sutton, Surrey, UK.
出版信息
Nat Genet. 2011 Jul 10;43(8):785-91. doi: 10.1038/ng.882.
Prostate cancer (PrCa) is the most frequently diagnosed male cancer in developed countries. We conducted a multi-stage genome-wide association study for PrCa and previously reported the results of the first two stages, which identified 16 PrCa susceptibility loci. We report here the results of stage 3, in which we evaluated 1,536 SNPs in 4,574 individuals with prostate cancer (cases) and 4,164 controls. We followed up ten new association signals through genotyping in 51,311 samples in 30 studies from the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortium. In addition to replicating previously reported loci, we identified seven new prostate cancer susceptibility loci on chromosomes 2p11, 3q23, 3q26, 5p12, 6p21, 12q13 and Xq12 (P = 4.0 × 10(-8) to P = 2.7 × 10(-24)). We also identified a SNP in TERT more strongly associated with PrCa than that previously reported. More than 40 PrCa susceptibility loci, explaining ∼25% of the familial risk in this disease, have now been identified.
前列腺癌(PrCa)是发达国家男性最常见的癌症。我们进行了前列腺癌的多阶段全基因组关联研究,并报告了前两个阶段的结果,这些结果确定了 16 个前列腺癌易感性位点。我们在此报告第三阶段的结果,在该阶段,我们评估了 4,574 名前列腺癌患者(病例)和 4,164 名对照者中 1,536 个 SNP。我们通过对基因组中与癌症相关改变进行研究的前列腺癌协会合作组(PRACTICAL)的 30 项研究中的 51,311 个样本进行基因分型,对十个新的关联信号进行了随访。除了复制先前报道的位点外,我们还在染色体 2p11、3q23、3q26、5p12、6p21、12q13 和 Xq12 上确定了七个新的前列腺癌易感性位点(P = 4.0×10(-8)至 P = 2.7×10(-24))。我们还发现了一个与 TERT 相关的 SNP,与之前报道的 SNP 相比,该 SNP 与 PrCa 的相关性更强。现在已经确定了超过 40 个前列腺癌易感性位点,这些位点解释了该疾病中约 25%的家族风险。