中国汉族人群PNPLA3 rs738409(C>G)基因多态性与肝硬化病因学的相关性  

Association between patain-like phospholipase domain-containing protein 3 rs738409(C>G) single nucleotide polymorphism and etiology of liver cirrhosis in a Chinese Han population

作　　者：王心怡[1] 李丹[1] 李异玲[1] 

机构地区：[1]中国医科大学附属第一医院消化内科,辽宁省沈阳市110001

出　　处：《世界华人消化杂志》2015年第23期3691-3699,共9页World Chinese Journal of Digestology

基　　金：辽宁省科技厅基金资助项目;No.2011225015;沈阳市科技厅基金资助项目;No.F13-220-9-61~~

摘　　要：目的:探究在中国汉族人群中,含patatin样磷脂酶域3(patain-like phospholipase domaincontaining protein 3,PNPLA3)I148M基因变异与酒精性肝硬化、慢性乙型病毒性肝炎肝硬化及慢性丙型病毒性肝炎肝硬化易感性及肝脏损伤程度、预后是否存在相关性.方法:本研究纳入224例中国汉族酒精性肝硬化、慢性丙型病毒性肝炎肝硬化、慢性乙型病毒性肝炎肝硬化患者,其中,慢性乙型病毒性肝炎肝硬化患者88例,酒精性肝硬化患者83例,慢性丙型病毒性肝炎肝硬化患者53例及200名健康人群作为对照组.采用探针法基因分型检测PNPLA3 rs738409与肝硬化之间的相关性.结果:PNPLA3 I148M rs738409 G等位基因型在酒精性肝硬化(OR=1.902,P<0.001)及慢性乙型肝炎肝硬化(OR=1.452,P=0.047)与健康对照组中的频率分布存在显著差异;丙型肝炎肝硬化与健康对照组中的等位基因频率分布差异无统计学意义(P=0.056).并未得出PNPLA3 I148M rs738409 C>G与肝硬化原发性肝细胞癌相关(P=0.965).结论:PNPLA3 rs738409 C>G在中国汉族人群中与酒精性肝硬化及慢性乙型肝炎肝硬化易感性存在相关性.AIM： To determine whether patain-like phospholipase domain-containing protein 3（PNPLA3） rs738409 single nucleotide polymorphism（SNP） affects the severity of hepatic damage, susceptibility and prognosis of liver cirrhosis with various liver diseases. METHODS： We enrolled 224 Chinese Han patients diagnosed with liver cirrhosis, of whom88 had hepatitis B virus（HBV）-related cirrhosis,83 had alcoholic liver cirrhosis and 53 had hepatitis C virus（HCV）-related cirrhosis. Two hundred healthy volunteers were enrolled as a control group. Taq Man genotyping assay was used to investigate the association of PNPLA3SNPs（rs738409） with the risk of liver cirrhosis. RESULTS： The G allele of the PNPLA3 I148 M variant was significantly different between alcoholic liver cirrhosis and the control（OR = 1.902,P〈0.001）, and was associated with HBV-related liver cirrhosis（OR = 1.452, P = 0.047）. There was no significant association between PNPLA3rs738409 genotype and HCV-related cirrhosis（P = 0.056）. There was no correlation between PNPLA3 rs738409 genotype and liver cirrhosis with hepatocellular carcinoma（P = 0.965）. CONCLUSION： PNPLA3 rs738409 CG is associated with alcoholic liver cirrhosis and HBV-related liver cirrhosis in a Chinese Han population.

关 键 词：patatin样磷脂酶域3 I148M 肝硬化 肝癌 

分 类 号：R575.2[医药卫生—消化系统]