原发性胆汁性肝硬化患者外周血丝氨酸蛋白酶抑制剂A1基因多态性分析  

Blood serine protease inhibitor A1 gene polymorphism in patients with primary biliary cirrhosis

作　　者：吴晓枫[1] 黄怡 杨如杏 邓少东 张静莹 官成浓 王颖[1] Wu Xiaofeng;Huang Yi;Yang Ruxing(Department of Integrated Traditional Chinese and Western Medicine Hepatology,Sixth People's Hospital,Shenyang 110006,Liaoning Province,China)

机构地区：[1]沈阳市第六人民医院中西医结合肝病科,110006 [2]广东医科大学第二临床医学院内科学与诊断学教研室 [3]广东医科大学第二临床医学院科研平台 [4]口腔医学3D打印技术重点实验室

出　　处：《实用肝脏病杂志》2021年第6期855-858,共4页Journal of Practical Hepatology

基　　金：广东省扬帆计划引进紧缺拔尖人才项目(编号:4YF16001G);2017年度广东医科大学引进人才科研启动基金资助项目(编号:2XB17028)。

摘　　要：目的探讨原发性胆汁性肝硬化(PBC)患者外周血丝氨酸蛋白酶抑制剂A1(SERPINA1)基因多态性变化。方法2018年3月~2020年3月我院收治的PBC患者62例和同期健康体检者60例,采用基因测序法检测外周血SERPINA1基因rs28929474位点基因型,采用x 2检验和哈迪-温伯格平衡检验SERPINA1基因rs28929474位点基因型和等位基因分布差异。结果两组人群SERPINA1基因rs28929474位点基因型分布符合哈迪-温伯格平衡(P>0.05),具有群体代表性;PBC患者AA基因型和A等位基因频率分别为37.1%和46.8%,显著高于对照组的11.7%和27.5%(P>0.05),而GG、GA基因型和G等位基因频率分别为43.5%、19.4%和53.2%,显著低于对照组的56.7%、31.7%和72.5%(P>0.05),提示A等位基因是罹患PBC的保护性因素,而G等位基因可能是患者发生PBC的风险因素;携带GA/AA型PBC患者Child评分和MELD评分分别为(7.9±1.8)分和(19.2±2.4)分,显著高于GG型PBC患者(P>0.05),而两组血清抗核抗体和抗线粒体抗体阳性率比较无显著性差异(P>0.05)。结论本地区居民发生PBC可能与SERPINA1基因rs28929474位点多态性有关,其中A基因可能是保护基因,而G基因可能是罹患疾病的风险基因。监测外周血SERPINA1基因rs28929474位点多态性对于预测PBC发生具有一定的临床意义,值得探讨。Objective The aim of this study was to explore peripheral blood serine protease inhibitor A1(SERPINA1)gene polymorphism in patients with primary biliary cirrhosis(PBC).Methods 60 patients with PBC and 60 healthy persons for physical examination were recruited in our hospital between March 2018 and March 2020.The gene sequencing method was applied to detect the genotype of the rs28929474 locus of the SERPINA1 gene,and the chi-square test and the Hardy-Weinberg balance test were applied to test the genotype and allele distribution differences of the rs28929474 locus of the SERPINA1 gene between the two groups.Results The genotype distribution at the rs28929474 locus of the SERPINA1 gene in the two groups conformed to the Hardy-Weinberg equilibrium(P>0.05),which suggested the representative of the population;the frequencies of AA genotype and A allele in patients with PBC were 37.1%and 46.8%,both significantly higher than 11.7%and 27.5%(P>0.05),while the frequencies of GG,GA genotype and G allele were 43.5%,19.4%,and 53.2%,all significantly lower than 56.7%,31.7%and 72.5%(P>0.05)in the healthy persons,suggesting that A allelemight be a protective factor for,while G allele might be a risk factor for individuals prone to PBC;the Child score and MELD score in PBC patients with GA/AA were(7.9±1.8)and(19.2±2.4),significantly higher than(6.8±1.6)and(15.7±2.1)in PBC patients with GG(P>0.05);there was no significant difference respect to serum ANA and AMA-M2 positive rates between the two groups(P>0.05).Conclusion The susceptibility of PBC among the residents in this area might be related to the rs28929474 polymorphism of the SERPINA1 gene,the A gene might be a protective,while the G gene might be a risk gene,and monitoring peripheral blood SERPINA1 gene rs28929474 polymorphism could predict the occurrence of PBC.

关 键 词：原发性胆汁性肝硬化 丝氨酸蛋白酶抑制剂A1 基因多态性 罹患风险 

分 类 号：R575.22[医药卫生—消化系统]