Common variants at 19p13 are associated with susceptibility to ovarian cancer.
Common variants at 19p13 are associated with susceptibility to ovarian cancer.
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上皮性卵巢癌 (EOC) 是发达国家妇科恶性肿瘤死亡的主要原因，占女性癌症死亡人数的 4%。我们利用可用的生存时间数据对 8,951 例 EOC 病例的 EOC 生存进行了三阶段全基因组关联研究，并对 EOC 易感性进行了平行关联分析。 19p13.11 的两个 SNP（rs8170 和 rs2363956）显示出与生存相关的证据（总体 P=5×10−4 和 6×10−4），但在第 3 阶段没有复制。然而，相同的两个 SNP 表现出对浆液性 EOC 风险的全基因组意义（P=3×10−9 和 4×10−11）。卵巢肿瘤中该位点的候选基因的表达分析支持了 BRCA1 相互作用基因 C19orf62（也称为 MERIT40，包含 rs8170）在 EOC 发育中的作用。
Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world accounting for 4 percent of deaths from cancer in women. We performed a three-phase genome-wide association study of EOC survival in 8,951 EOC cases with available survival time data, and a parallel association analysis of EOC susceptibility. Two SNPs at 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P=5×10−4 and 6×10−4), but did not replicate in phase 3. However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P=3×10−9 and 4×10−11 respectively). Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1 interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development.
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