基础医学与临床 ›› 2009, Vol. 29 ›› Issue (9): 920-923.

• 研究论文 • 上一篇    下一篇

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

马文豪 覃瑞 滕少康   

  1. 右江民族医学院附属医院眼科 右江民族医学院附属医院眼科 右江民族医学院人体解剖学教研室
  • 收稿日期:2008-11-24 修回日期:2008-12-17 出版日期:2009-09-20 发布日期:2009-09-20
  • 通讯作者: 马文豪

Association analysis of XRCC1-Arg399Gln polymorphism with thyroid-associated ophthalmopathy

Wen-hao MA, Rui QIN, DShao-kang TENG   

  1. Dept,of Ophthalmology of Affiliated Hosipital,Youjiang Medical College for Nationalities Dept.of Anatomy, Youjiang Medical College for Nationalities
  • Received:2008-11-24 Revised:2008-12-17 Online:2009-09-20 Published:2009-09-20
  • Contact: Wen-hao MA,

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 XRCC1Arg399G1n位点A等位基因(Gln)可能是TAO的易感基因,其多态与吸烟可能存在联合作用。

关键词: 甲状腺相关眼病, XRCC1, 基因多态性

Abstract: Objective To investigate the association of XRCC1-Arg399Gln polymorphism with hyroid-tassociated ophthalmopathy (TAO ) . Methods XRCC1-Arg399Gln polymorphism was determined by PCR-RFLP in 182 patients with TAO and 182 healthy subjects. Results The significant difference of the allelic 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 for the individuals carrying GA+AA allele increased(OR 1.863,95%CI 1.228~2.826,P<0.05). The OR of TAO for individuals carrying A allele or 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 two made the OR of TAO up to 4.981(95%CI 2.697~9.1998). Conclusion Allele A in XRCC1Arg399G1n may be associated with TAO. Potential interactions were found among XRCC1-Arg399G1n polymorphisms and cigarette smoking.

Key words: thyroid-associated ophthalmopathy (TAO ), XRCC1, genetic polymorphism

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