DNA修复基因XRCC1-Arg399Gln多态位点与壮族甲状腺相关眼病的相关性分析

Association analysis of XRCC1-Arg399Gln polymorphism with thyroid-associated ophthalmopathy in Zhuang ethnic population

目的探讨DNA修复基因XRCC1-Arg399Gln多态性与甲状腺相关眼病（TAO）的相关性。方法用PCR-RFLP法检测182例TAO患者和182例健康对照者的XRCC1-Arg399Gln多态性。结果TAO组和对照组的等位基因分布有差异,TAO组突变等位基因（A）频率高于健康对照组（P〈0.001）;与野生型（GG）相比,携带变异基因的个体（GA＋AA）可增加TAO的发病风险（OR值为1.863,95%CI为1.228～2.826,P〈0.05）。对于TAO,携带变异基因或吸烟单一因素的OR值分别为1.343（95%CI 0.764～2.36）和2.0274（95%CI 1.121～3.667）,但携带变异基因者如果吸烟,OR值则高达4.981（95%CI 2.697～9.1998）。结论XRCC1-Arg399G1n位点A等位基因（Gln）可能是TAO的易感基因,其多态性与吸烟可能存在联合作用。

Objective To investigate potential association of XRCC1-Arg399Gln polymorphism with hyroid-tassoeiated ophthalmopathy （TAO）. Methods XRCC1-Arg399Gln polymorphism was identified by PCR-RFLP in 182 patients with TAO and 182 healthy subjects. Results The significant difference of the allelie frequency distribution was found between TAO and control group （P 〈 0. 001 ） , The frequency of A allelic in TAO was higher than that in control group. Compared with subjects carrying GG allele, the risk of TAO in the individuals carrying GA ＋ AA allele increased（ OR 1. 863,95% CI 1. 228 - 2. 826 ,P 〈 0. 05 ）. The OR of TAO in individuals carrying A allele or in cigarette smokers was respectively 1. 343 （95% CI 0. 764 -2.36） and 2. 0274 （95% CI 1. 121 - 3. 667）. But The combination of the above the two factors made the OR of TAO up to 4. 981（95% CI 2. 697 -9. 1998）. Condusion Allele A in XRCC1-Arg399Gln may be associated with TAO. Potential interactions were found among XRCC1-Arg399Gln polymorphisms and cigarette smoking.