A genetic variant in the promoter of APE1 gene (-656 T>G) is associated with breast cancer risk and progression in a Chinese population
A genetic variant in the promoter of APE1 gene (-656 T>G) is associated with breast cancer risk and progression in a Chinese population
复制标题
DOI：
10.1016/j.gene.2013.08.052
复制
发表时间：
2013-11-15
期刊：
影响因子：
3.5
通讯作者：
Wang, Xijing
中科院分区：
文献类型：
--
作者：
Kang, Huafeng;Dai, Zhijun;Wang, Xijing
背景/目的：APE 1是碱基切除修复途径中的一种重要的DNA修复蛋白。APE 1的遗传变异已被认为影响个体对人类恶性肿瘤的易感性。本研究旨在探讨APE 1基因的两个功能性多态性（-656 T>G和1349 T>G）与乳腺癌发病风险的关系。非条件logistic回归调整潜在的混杂因素，以评估association.Results：我们发现，变异基因型的-656 T>G显着相关，与野生型相比，乳腺癌的风险降低[TG/GG vs. TT：校正比值比（OR）= 0.71，95%可信区间（CO = 0.56-0.91），该多态性的保护作用在年轻受试者亚组中更为显著（G.结论：APE 1 - 656 T>G基因多态性可能影响中国人群乳腺癌的易感性和进展，而1349 T>G基因多态性可能不影响乳腺癌的进展。需要大量基于人群的前瞻性研究来验证这些发现。(C)2013爱思唯尔有限公司版权所有。
Background/aims: APE1 is an important DNA repair protein in the base excision repair pathway. Genetic variations in APE1 have been suggested to influence individuals' susceptibility to human malignancies. The present study was aimed to investigate the associations between two functional polymorphisms in APE1 (-656 T>G and 1349 T>G) and breast cancer risk.Methods: We genotyped the two polymorphisms in a case-control study of 500 breast cancer patients and 799 age-matched cancer-free controls using the TaqMan method. Unconditional logistic regression adjusted for potential confounding factors was used to assess the associations.Results: We found that the variant genotypes of the -656 T>G were significantly associated with decreased breast cancer risk, compared with the wild genotype [TG/GG vs. TT: adjusted odds ratio (OR) = 0.71, 95% confidence interval (CO = 0.56-0.91], and the protective effect of this polymorphism was more predominant among the subgroups of younger subjects (G. polymorphism and breast cancer risk.Conclusion: Our results suggest that the APE1 -656 T>G but not the 1349 T>G polymorphism may influence the susceptibility and progression of breast cancer in the Chinese population. Large population-based prospective studies are required to validate these findings. (C) 2013 Elsevier B.V. All rights reserved.