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通过多种癌症全基因组关联研究(GWASs)鉴定出的6p21.1和7p15.3基因变异与卵巢癌风险:一项中国汉族女性病例对照研究

Genetic variants at 6p21.1 and 7p15.3 Identified by GWASs of multiple cancers and ovarian cancer risk: a case-control study in Han Chinese women.

作者信息

Li Da-Ke, Han Jing, Liu Ji-Bin, Jin Guang-Fu, Qu Jun-Wei, Zhu Meng, Wang Yan-Ru, Jiang Jie, Ma Hong-Xia

机构信息

Department of Gynaecology, Jiangsu Provincial Hospital of TCM, Affliated hospital of Nanjing University of TCM, Nanjing, China E-mail :

出版信息

Asian Pac J Cancer Prev. 2014;15(1):123-7. doi: 10.7314/apjcp.2014.15.1.123.

Abstract

A recent study summarized several published genome-wide association studies (GWASs) of cancer and reported two pleiotropic loci at 6p21.1 and 7p15.3 contributing to multiple cancers including lung cancer, noncardia gastric cancer (NCGC), and esophageal squamous-cell carcinoma (ESCC) in Han Chinese. However, it is not known whether such genetic variants have similar effects on the risk of gynecologic cancers, such as ovarian cancer. Hence, we explored associations between genetic variants in 6p21.1 and 7p15.3 and ovarian cancer risk in Han Chinese women. We performed an independent case-control study by genotyping the two loci (rs2494938 A > G at 6p21.1 and rs2285947 A > G at 7p15.3) in a total of 377 ovarian cancer cases and 1,034 cancer-free controls using TaqMan allelic discrimination assay. We found that rs2285947 at 7p15.3 was significantly associated with risk of ovarian cancer with per allele odds ratio (OR) of 1.33 [95% confidence interval (CI): 1.08-1.64, P=0.008]. However, no significant association was observed between rs2494938 and ovarian cancer risk. Our results showed that rs2285947 at 7p15.3 may also contribute to the development of ovarian cancer in Han Chinese women, further suggesting pleiotropy of 7p15.3 in multiple cancers.

摘要

最近的一项研究总结了几项已发表的癌症全基因组关联研究(GWAS),并报告了位于6p21.1和7p15.3的两个多效性位点,它们在汉族人群中与多种癌症有关,包括肺癌、非贲门胃癌(NCGC)和食管鳞状细胞癌(ESCC)。然而,尚不清楚此类基因变异对妇科癌症(如卵巢癌)风险是否有类似影响。因此,我们探讨了6p21.1和7p15.3基因变异与汉族女性卵巢癌风险之间的关联。我们通过使用TaqMan等位基因鉴别分析对总共377例卵巢癌病例和1034例无癌对照进行两个位点(6p21.1处的rs2494938 A>G和7p15.3处的rs2285947 A>G)的基因分型,开展了一项独立的病例对照研究。我们发现,7p15.3处的rs2285947与卵巢癌风险显著相关,每个等位基因的优势比(OR)为1.33 [95%置信区间(CI):1.08 - 1.64,P = 0.008]。然而,未观察到rs2494938与卵巢癌风险之间存在显著关联。我们的结果表明,7p15.3处的rs2285947可能也对汉族女性卵巢癌的发生有影响,进一步表明7p15.3在多种癌症中具有多效性。

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