四川人群DNA修复基因多态性与宫颈癌风险的关系.docVIP

XRCC1基因多态性与癌风险的关系1 杨志惠2 （1 广汉市人民医院妇产科，四川泸州646000）摘要 目的 研究人群X 线修复交叉互补基因1(XRCC1) Arg194Trp Arg280His多态性与癌的关系。方法 采用病例－对照研究方法， PCR-RFLP检测例癌病人及性别、年龄相匹配的例正常人群XRCC1 Arg194TrpArg280His多态性分布及与癌风险的关系。结果 病例组和对照组Arg194Trp基因型频率分布有显著性差异（P＜0.05），Arg194Trp多态性个体患宫颈癌风险，Trp可能增加个体患宫颈癌的风险（OR＝，95%CI＝，P＜0.0），Arg280HisP＞0.05）。结论 Arg194Trp多态性宫颈癌Arg280His多态性与宫颈癌易感性无关。关键词宫颈癌；病例－对照研究；XRCC1基因；遗传多态性Association of genetic polymorphisms in XRCC1 gene with risk of cervical cancer Wang XiaoQin, Yang zhihui (Department of gynaecology and obstetrics, the Peoples Hospital of GuangHan, Sichuan GuangHan, 646000) Objective The aim of this study was to elucidate the association between the polymorphism of X-rag repair cross-complementing groups 1 ( XRCC 1) Arg194Trp, Arg280His and the risk of cervical cancer in Sichuan populations. Methods A case-control study was conducted involving 123 cervical cancer patients and 175 healthy controls. The healthy controls were matched with the cases on age and sex. The PCR-RFLP analysis was used to determine the genotypes. Results The difference of Arg280His genotypes frequency between cases and controls was not significant. Significant differences of allele frequencies were found for 194Trp between the cases and controls. Individuals with 194Trp allele showed 1.617-fold (95%CI＝，P＜0.0 )increased risk of developing cervical cancer. Conclusion The results suggest that the genetic polymorphism of Arg194Trp may be an important player in the development of cervical cancer, and it may be a possible marker for cervical cancer. Key Words: cervical cancer, case-control study, XRCC1 gene, genetic polymorphism 宫颈癌是发展中国家最常见的妇科恶性肿瘤之一，过去常认为高危型人乳头瘤病毒(human papillomavirus , HPV)的感染是导致宫颈癌的主要原因之一，但近年众多的研究表明，个体遗传因素的改变也起着非常重要的作用[1]，但其发病的遗传学机制并不清楚。X 线修复交叉互补基因1 (X-rag repair cross-complementing groups 1 , XRCC 1)是哺乳动物DNA修复系统主要基因之一。XRCC1主要通过连接断裂的单链DNA和碱基切除途径修复损伤的DNA，对维持个体的遗传稳定性起着重要作用。XRCC1多态性与肿瘤发病风险相关[2，3]XRCC1Arg194Trp、Arg280His多态性我们通过病例－对照研究，探讨Arg194TrpArg280His多态性癌发病以期为癌的发病机制提供可参考的遗传学