自身免疫性肝炎和原发性胆汁性肝硬化患者Fas-670基因多态性检测  

The relationship of Fas-670 polymorphisms with autoimmune liver disease hepatitis and primary cirrhosis

作　　者：孙继红[1] 徐芸[1] 汪群英[1] 张晓君[1] 罗杰[1] 

机构地区：[1]郑州大学第一附属医院消化内科,郑州450052

出　　处：《郑州大学学报（医学版）》2009年第1期78-81,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省教育厅自然科学基金资助项目2007320060

摘　　要：目的:探讨河南汉族人群自身免疫性肝炎(AIH)、原发性胆汁性肝硬化(PBC)患者Fas-670的基因多态性。方法:应用限制性片段长度多态性方法分析55例AIH与69例PBC患者外周血DNA Fas-670基因型,并与120例正常健康人进行对照比较。结果:AIH、PBC及正常对照组人群基因型频率分布均符合Hardy-Weinberg平衡。AIH患者Fas-670基因型频率与正常对照组比较差异有统计学意义(χ2=6.545,P=0.038),AIH组AA基因型频率有增高趋势(40%vs22%,P=0.012,OR=2.4)。PBC患者Fas-670基因型频率与正常对照组比较差异无统计学意义(P>0.05)。与国外报道比较发现,中国汉族正常人群Fas-670基因型频率与高加索人、日本人、韩国人等相比差异均无统计学意义(P>0.05)。日本人与韩国人,日本人与高加索人基因型频率和G等位基因频率差异有统计学意义(P<0.05)。结论:Fas-670基因多态性位点与中国汉族人群AIH易感性有关,正常人群Fas-670位点基因型分布存在种族差异。Aim： To investigate the association between Chinese patients with autoimmune hepatitis （AIH） , primary biliary cirrhosis （PBC） and the polymorphisms of Fas-670. Methods：The Fas-670A/G polymorphisms was genotyped via restriction fragment length polymorphism methods in 55 AIH patients,69 PBC patients and 120 healthy controls. Results： All genotype frequencies of Fas-670 were in Hardy-Weinberg equilibrium. There were significant differences in the distribu- tion of Fas-670 polymorphisms between AIH patients and controls（x^2 = 6. 545 ,P = 0. 038 ） , and the AA genotype frequency was significantly increased in patients compared to controls （40% vs 22% ,P = 0.012, OR = 2.4）. We found no statistical differences between PBC patients and controls of the Fas-670 polymorphisms genotyped in this study. There were not significant difterences in the distribution of Fas-670 serle polymorphisms among batween chinese controls and Japanese, corean, caucasoid et al. On the other hand, we found significant differences between Japanese and Corean Japavese of the Fas-670 polymorphisms （ P 〈 0.05 ）. Conclusion ： These results suggests that the polymorphisms of Fas-670 gene probably confer susceptibility of AIH in the Chinese population. There are race differences in the distribution of Fas-670 polymorphisms.

关 键 词：自身免疫性肝炎 原发性胆汁性肝硬化 FAS基因 遗传多态性 

分 类 号：R575[医药卫生—消化系统]