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多个基因变异与中国汉族人群乳腺癌易感性的关联。

Association of multiple genetic variants with breast cancer susceptibility in the Han Chinese population.

作者信息

Li Xu, Zou Wenjing, Liu Ming, Cao Wei, Jiang Yonghong, An Gaili, Wang Yuzheng, Huang Shangke, Zhao Xinhan

机构信息

Department of Oncology, First Affiliated Hospital, Xi'an Jiatong University, Xi'an, Shannxi 710061, China.

Department of The First of Internal Medicine, Tumor Hospital of Shaanxi Province Affiliated Hospital, Medical College of Xi'an Jiao Tong University, Xi'an, Shannxi 710061, China.

出版信息

Oncotarget. 2016 Dec 20;7(51):85483-85491. doi: 10.18632/oncotarget.13402.

Abstract

We selected 13 tag single nucleotide polymorphisms (tSNPs) to investigate whether they were associated with breast cancer risk in the Chinese Han population. Upon statistical analyses of clinical data from 551 patients and 577 controls, we found that six of the 13 SNPs were associated with breast cancer; namely, rs4973768(Odds ratio (OR) = 1.30, 95% confidence interval (CI) =1.01-1.67), rs981782(OR =1.30, 95% CI=1.01-1.66), rs1432679(OR =0.84, 95% CI=0.70-0.99), rs10759243(OR=1.30, 95%CI=1.09-1.55), rs10822013(OR =1.18, 95% CI=1.00-1.39) and rs704010(OR =1.63, 95% CI=1.04-2.56). When stratified based on breast cancer subtype, our analyses revealed that three SNPs (rs981782, rs10759243 and rs704010) correlated with ER+ breast cancer, while another three (rs4973768, rs1432679 and rs10822013) correlated with ER- breast cancer. We obtained similar results while investigating the correlation of SNPs with PR status or clinical stage. Our results suggest that associations identified between SNPs and breast cancer through genome-wide association studies (GWAS) may not always be generalizable across races.

摘要

我们选择了13个标签单核苷酸多态性(tSNP),以研究它们是否与中国汉族人群的乳腺癌风险相关。在对551例患者和577例对照的临床数据进行统计分析后,我们发现13个单核苷酸多态性中有6个与乳腺癌相关;即rs4973768(优势比(OR)=1.30,95%置信区间(CI)=1.01-1.67)、rs981782(OR=1.30,95%CI=1.01-1.66)、rs1432679(OR=0.84,95%CI=0.70-0.99)、rs10759243(OR=1.30,95%CI=1.09-1.55)、rs10822013(OR=1.18,95%CI=1.00-1.39)和rs704010(OR=1.63,95%CI=1.04-2.56)。当根据乳腺癌亚型进行分层时,我们的分析显示,三个单核苷酸多态性(rs981782、rs10759243和rs704010)与雌激素受体阳性(ER+)乳腺癌相关,而另外三个(rs4973768、rs1432679和rs10822013)与雌激素受体阴性(ER-)乳腺癌相关。在研究单核苷酸多态性与孕激素受体(PR)状态或临床分期的相关性时,我们也得到了类似的结果。我们的结果表明,通过全基因组关联研究(GWAS)确定的单核苷酸多态性与乳腺癌之间的关联可能并不总是适用于所有种族。

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