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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
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摘要 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.
出处 《基础医学与临床》 CSCD 北大核心 2009年第9期920-923,共4页 Basic and Clinical Medicine
基金 广西教育厅科研项目(桂教科研[2006]26号)
关键词 甲状腺相关眼病 XRCC1 基因多态性 thyroid-associated ophthalmopathy (TAO) XRCC1 genetic polymorphism
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参考文献12

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