Department of General Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.
Mol Biol Rep. 2012 Jan;39(1):577-83. doi: 10.1007/s11033-011-0773-7. Epub 2011 May 10.
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.
Ku70 在 DSBR（DNA 双链断裂修复）和维持基因组完整性中发挥重要作用。人类 Ku70 内的遗传变异已被证明与多种癌症的风险增加有关。在这项基于医院的病例对照研究中，我们旨在研究 Ku70 基因启动子区域（rs2267437）的单核苷酸多态性（SNP）是否与中国汉族人群乳腺癌易感性相关。共纳入 293 例乳腺癌患者和 301 名年龄匹配的健康对照者。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析检测 Ku70-1310C/G 多态性。患者和对照组之间观察到基因型分布和等位基因频率存在显著差异。CG 或 GG 携带者与 CC 纯合子相比，患乳腺癌的风险更高（OR=1.43，95%CI=1.02-2.00，P=0.038 和 OR=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风险增加相关（OR=1.68，95%CI=1.21-2.33，P=0.002），但与绝经后妇女无关（OR=1.33，95%CI=0.85-2.10，P=0.216）。本研究表明，Ku70-1310C/G 启动子多态性可能是中国汉族人群乳腺癌的易感因素。
