PNPLA3、Sort1基因多态性与酒精性肝病易感性的关系  

Association of PNPLA3 and Sort1 gene polymorphisms with susceptibility to alcoholic liver disease

作　　者：李晓飞 张丽萍[2] 郭永胜 LI Xiaofei;ZHANG Liping;GUO Yongsheng(Department of Infectious,Jiaozuo Third People's Hospital,Jiaozuo,Henan 454000;Department of Operation Room,Jiaozuo People's Hospital,Jiaozuo,Henan,454000;Jiaozuo Shanyang District CDC,Jiaozuo,Henan 454000)

机构地区：[1]焦作市第三人民医院传染三科,河南焦作454000 [2]焦作市人民医院手术室,河南焦作454000 [3]焦作市山阳区疾控中心,河南焦作454000

出　　处：《实验与检验医学》2020年第3期430-433,共4页Experimental and Laboratory Medicine

基　　金：国家卫生计生委医药卫生科技发展计划项目,编号W2018JZC2073。

摘　　要：目的探讨PNPLA3、Sort1基因多态性与酒精性肝病易感性的关系。方法选取2017年1月至2018年3月于我院治疗的已确诊酒精性肝病患者110例为病例组,同时选取长期大量饮酒但未被诊断酒精性肝病患者100例为无肝病嗜酒组、健康自愿者200例为对照组,检测各组PNPLA3、Sort1基因多态性。结果 PNPLA3基因rs738409位点检测出CC、CG、GG三种基因型,Sort1基因rs646776位点检测出CC、TC、TT三种基因型;病例组PNPLA3基因GG型和等位基因G的比例分布为23.64%和45.45%,明显高于无肝病嗜酒组和对照组(P<0.05);各组Sort1基因多态性分布差异比较无统计学意义(P>0.05);病例组不同PNPLA3基因型患者甘油三酯(Triglyceride,TG)、总胆固醇(Total cholesterol,TC)、高密度脂蛋白胆固醇(High density liptein cholesterol,HDL-C)和低密度脂蛋白胆固醇(Low Density Lipoprotein Chesterol,LDL-C)比较差异无统计学意义(P>0.05);病例组Sort1基因TT型患者TG为1.61±0.30mmol/L,高于CC+CT型患者,而HDL-C为1.80±0.65mmol/L,低于CC+CT型患者(P<0.05)。结论 PNPLA3基因多态性与酒精性肝病易感性有一定关系,Sort1基因多态性与酒精性肝病易感性无明显关系,但与患者的血脂水平具有一定的相关性。Objective To investigate the association between PNPLA3 and Sort1 gene polymorphisms and susceptibility to alcoholic liver disease.Methods A total of 110 cases of alcoholic liver disease(case group)were selected from January 2017 to March 2018 in our hospital,100 cases without alcoholic liver disease who had been drinking heavily for a long time(without liver disease alcoholism group)and 200 healthy volunteers(control group)were selected.PNPLA3 and Sort1 gene polymorphisms were detected in each group.Results Three genotypes of CC,CG and GG were detected at rs738409 locus of PNPLA3 gene,three genotypes of CC,TC and TT were detected at Sort1 gene rs646776 loci;The proportions of PNPLA3 genotype GG and allele G in case group were 23.64%and 45.45%,which were significantly higher than those without liver disease alcoholism group and control group(P<0.05);There was no significant difference in the distribution of Sort1 gene polymorphisms among each groups(P>0.05);There were no significant difference in triglyceride(TG),total cholesterol(TC),high density lipoprotein cholesterol(HDL-C)and low density lipoprotein cholesterol(LDL-C)in patients with different PNPLA3 genotypes(P>0.05);The TG of Sort1 gene TT in case group was(1.61±0.30)mmol/L,higher than that of type CC+CT,and HDL-C was(1.80±0.65)mmol/L,lower than that of CC+CT type(P<0.05).Conclusion The polymorphism of PNPLA3 gene is related to the susceptibility of alcoholic liver disease,the polymorphism of Sort1 gene is not related to the susceptibility of alcoholic liver disease,but it may be related to the level of blood lipid in patients.

关 键 词：PNPLA3基因 Sort1基因 基因多态性 酒精性肝病 遗传易感性 

分 类 号：R575[医药卫生—消化系统] R446.112[医药卫生—内科学]