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俄罗斯人群中DNA修复基因多态性与乳腺癌风险:一项病例对照研究。

Polymorphisms in DNA repair genes and breast cancer risk in Russian population: a case-control study.

作者信息

Shadrina Alexandra S, Ermolenko Natalia A, Boyarskikh Uljana A, Sinkina Tatiana V, Lazarev Alexandr F, Petrova Valentina D, Filipenko Maxim L

机构信息

Institute of Chemical Biology and Fundamental Medicine, Lavrentjeva, 8, 630090, Novosibirsk, Russia.

Novosibirsk State University, Pirogova Street, 2, 630090, Novosibirsk, Russia.

出版信息

Clin Exp Med. 2016 Feb;16(1):21-8. doi: 10.1007/s10238-014-0329-y. Epub 2014 Dec 24.

Abstract

Genetic variation in DNA repair genes can alter an individual's capacity to repair damaged DNA and influence the risk of cancer. We tested seven polymorphisms in DNA repair genes XRCC1, ERCC2, XRCC3, XRCC2, EXOI and TP53 for a possible association with breast cancer risk in a sample of 672 case and 672 control Russian women. An association was observed for allele A of the polymorphism XRCC1 (R399Q) rs25487 (co-dominant model AA vs. GG: OR 1.76, P = 0.003; additive model OR 1.28, P = 0.005; dominant model: OR 1.29, P = 0.03; recessive model OR 1.63, P = 0.008). Allele T of the polymorphism ERCC2 (D312N) rs1799793 was also associated with breast cancer risk (co-dominant model TT vs. CC: OR 1.43, P = 0.04; additive model OR 1.21, P = 0.02; dominant model: OR 1.30, P = 0.02), but the association became insignificant after applying Bonferroni correction. No association with breast cancer was found for the remaining SNPs. In summary, our study provides evidence that polymorphisms in DNA repair genes may play a role in susceptibility to breast cancer in the population of ethnical Russians.

摘要

DNA修复基因的遗传变异可改变个体修复受损DNA的能力,并影响患癌风险。我们在672例俄罗斯乳腺癌患者和672例对照女性样本中,检测了DNA修复基因XRCC1、ERCC2、XRCC3、XRCC2、EXOI和TP53中的7个多态性位点,以探讨其与乳腺癌风险的可能关联。观察到多态性位点XRCC1(R399Q)rs25487的等位基因A与乳腺癌风险相关(共显性模型:AA与GG相比,OR = 1.76,P = 0.003;加性模型:OR = 1.28,P = 0.005;显性模型:OR = 1.29,P = 0.03;隐性模型:OR = 1.63,P = 0.008)。多态性位点ERCC2(D312N)rs1799793的等位基因T也与乳腺癌风险相关(共显性模型:TT与CC相比,OR = 1.43,P = 0.04;加性模型:OR = 1.21,P = 0.02;显性模型:OR = 1.30,P = 0.02),但在应用Bonferroni校正后,该关联变得不显著。其余单核苷酸多态性(SNP)与乳腺癌无关联。总之,我们的研究提供了证据,表明DNA修复基因的多态性可能在俄罗斯族人群乳腺癌易感性中起作用。

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