The Ku70-1310C/G promoter polymorphism is associated with breast cancer susceptibility in Chinese Han population
The Ku70-1310C/G promoter polymorphism is associated with breast cancer susceptibility in Chinese Han population
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Ku70-1310C/G启动子多态性与中国汉族人群乳腺癌易感性相关
DOI：
10.1007/s11033-011-0773-7
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发表时间：
2012-01-01
影响因子：
2.8
通讯作者：
Zhu, Qingyao
中科院分区：
文献类型：
--
作者：
He, Wenshan;Luo, Sijia;Zhu, Qingyao
Ku 70在DNA双链断裂修复（DSBR）和基因组完整性的维持中起重要作用。人类Ku 70内的遗传变异已被证明与几种类型癌症的风险增加有关。本研究旨在探讨Ku 70基因启动子区（rs 2267437）单核苷酸多态性（SNP）与中国汉族人群乳腺癌易感性的关系。共有293名乳腺癌患者和301名年龄匹配的健康对照者参加了这项研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析Ku 70 - 1310 C/G多态性。患者组与对照组基因型分布和等位基因频率有显著性差异。CG和GG携带者患乳腺癌的危险性高于CC纯合子（OR分别为1.43，95%CI = 1.02-2.00，P = 0.038和3.53，95%CI = 1.60-7.80，P = 0.002）。进一步分层分析显示，G等位基因与绝经前妇女乳腺癌发病风险增加有关（OR = 1.68，95% CI = 1.21-2.33，P = 0.002），而与绝经后妇女无关（OR = 1.33，5% CI = 0.85-2.10，P = 0.216）。Ku 70 - 1310 C/G多态性可能是中国汉族人群乳腺癌的易感因素。
Ku70 plays an important role in the DSBR (DNA double-strand breaks repair) and maintenance of genomic integrity. Genetic variations within human Ku70 have been demonstrated to be associated with increased risk of several types of cancers. In this hospital-based case-control study, we aimed to investigate whether a single nucleotide polymorphism (SNP) in the promoter region (rs2267437) of Ku70 gene is associated with susceptibility to breast cancer in Chinese Han population. A total of 293 patients with breast cancer and 301 age-matched healthy controls were enrolled in this study. The Ku70 -1310C/G polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. A significant difference in genotype distribution and allele frequency was observed between patients and controls. The CG or GG carries were at higher risk of breast cancer compared with the CC homozygotes (OR = 1.43, 95% CI = 1.02-2.00, P = 0.038 and OR = 3.53, 95% CI = 1.60-7.80, P = 0.002, respectively). Further stratification analysis revealed that G allele was associated with an increased risk of breast cancer among premenopausal women (OR = 1.68, 95% CI = 1.21-2.33, P = 0.002), but not in postmenopausal women (OR = 1.33, 5% CI = 0.85-2.10, P = 0.216). Our study suggests that the Ku70 -1310C/G promoter polymorphism may be a susceptibility factor for breast cancer in Chinese Han population.