X线修复交叉互补组1基因Arg399Gln多态性与喉癌遗传易感性的研究

Association of the XRCC1 Arg399Gln polymor-phism with the risk of laryngeal cancer

目的探讨X线修复交叉互补组1(X-ray repair cross complementing group 1,XRCC1)基因多态性与喉癌遗传易感性的关系。方法采用病例组和对照组设计,选择40例喉鳞状细胞癌病例和40例体检正常的健康人对照,两组间年龄和性别进行匹配,运用聚合酶链-限制性片段长度多态性(polymerase chain reaction and restriction fragment length polymorphism,PCR-RFLP)技术分析DNA修复基因XRCC1c.399多态性。结果病例组中携带XRCC1c.399位点Arg/Gln(杂合型)及Gln/Gln(突变型)基因型的比例明显高于对照组(P<0.01)。与Arg/Arg(野生型)相比较,携带XRCC1c.399Arg/Gln及Gln/Gln基因型个体发生喉癌的危险性升高了3.50倍(OR=3.50,95%CI=1.39～8.84)。结论XRCC1c.399多态性可能与喉癌遗传易感性有关联,XRCC1c.399位点Arg→Gln的突变将导致喉癌的发病风险升高。

To study genetic polymorphism of XRCC1Arg399GIn and the laryngeal cancer risk. METHODS Acase-control study of 1：1 pair matching was conducted. Forty patients with laryngeal squamous cell carcinoma and 40 healthy controls were chosen for this study. The two groups were matched by sex and age. Polymerase chain reaction and Restriction Fragment Length Polymorphism was used to explore the polymorphism of DNA repair gene XRCClc.399. RESULTS The frequency of XRCC1c.399Arg/GIn＋GIn/GIn genotypes in the case group was higher than that in the control group （P〈0.01）. There was a 3.50 fold increased risk of laryngeal cancer for individuals carrying XRCC1c.399Arg/GIn＋GIn/GIn genotypes（OR=3.50, 95 %C1=1.39～8.84）, compared with subjects carrying Arg/Arg genotype. CONCLUSION The polymorphism of XRCC1Arg399GIn might be associated with the susceptibility of laryngeal cancer. The mutation of XRCClc.399 Arg --~GIn might lead to a increased risk of laryngeal cancer.