XRCC1、hOGG1基因多态性与喉癌遗传易感性的关系

目的 探讨X线修复交叉互补组1基因(X-ray repair cross complementing group 1,XRCC1)、8-羟基鸟嘌呤修复酶基因(human 8-oxoguanine glycosylase I,hOGG1)多态性与喉癌遗传易感性的关系.方法 采用病例-对照设计,应用聚合酶链反应-限制性片段长度多态性分析法检测了72例经病理确诊的喉癌患者和随机抽样的72例无肿瘤、无遗传病对照者XRCC1-Arg399Gln、hOGG1-Ser326Cys多态性.结果 病例组XRCC1第399位密码子杂合型(Arg/Gln)及突变型(Gln/Gln)和hOGG1第326位密码子杂合型(Ser/Cys)及突变型(Cys/Cys)分布频率均高于对照组(P＜0.05),与携带XRCC1-399野生型(Arg/Arg)、hOGG1-326野生型(Ser/Ser)个体相比,携带该基因型的个体喉癌的发病风险分别升高了3.37和2.54倍.交互作用分析显示,吸烟组与不吸烟组相比,携带XRCC1、hOGG1各基因型的个体的喉癌发病风险差异未发现存在统计学意义(xH12=0.15,xH22=0.28,P＞0.05).结论 XRCC1-399位点Arg→Gln和hOGG1-326位点Ser→Cys的氨基酸替换可能导致喉癌的发病风险增加,XRCC1-Arg399Gln、hOGG1-Ser326Cys多态性可能与喉癌的遗传易感性有关.

Association of the XRCC1 and hOGG1 polymorphisms with the risk of laryngeal carcinoma

OBJECTIVE: To evaluate the association between the polymorphisms of X-ray repair cross complementing group 1 (XRCC1) and human 8-oxoguanine glycosylase I (hOGG1) gene and the risk for laryngeal carcinoma. METHODS: This is a case-control study comprised of two groups: 72 patients with laryngeal squamous carcinoma, and 72 controls without laryngeal carcinoma. The PCR-restriction fragment length polymorphism method was used to analyze the XRCC1-Arg399Gln, hOGG1-Ser326Cys polymorphisms. RESULTS: The frequencies of XRCC1-399Arg/Gln+ Gln/Gln and hOGG1-326Ser/Cys+ Cys/Cys genotypes in the case group were higher than that of the control group(P< 0.05). There was a 3.37-fold or 2.54-fold increased risk of laryngeal carcinoma for individuals carrying XRCC1-399Arg/Gln+ Gln/Gln or hOGG1-326Ser/Cys+ Cys/Cys genotypes, compared with subjects carrying XRCC1-Arg/Arg or hOGG1-Ser/Ser genotype, respectively. No statistically significant differences were found between the smoking group and non-smoking group for risk of laryngeal carcinoma. CONCLUSION: The amino acid replacement of XRCC1-399Arg to Gln and hOGG1-326Ser to Cys might lead to an increased risk of laryngeal carcinoma. The study demonstrated the positive association between the polymorphisms of XRCC1 and hOGG1 genes and laryngeal carcinoma.