PNPLA3 I148M (rs738409) SNP与肝硬化及肝细胞癌关系的研究进展  

Progress in understanding association of PNPLA3 I148M (rs738409) single nucleotide polymorphism with hepatocellular carcinoma and hepatic cirrhosis

作　　者：王心怡[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》2014年第29期4430-4436,共7页World Chinese Journal of Digestology

摘　　要：含patatin样磷脂酶域3(patatin-like phospholipase domain containing 3,PNPLA3),又称脂肪营养素.大量位于肝细胞膜上并参与脂质代谢.rs738409处基因突变致148位异亮氨酸被蛋氨酸取代(148 isoleucine to Methionine protein variant,I148M).近年来全基因组分析显示PNPLA3 I148M与肝脏脂肪含量、血清肝酶水平、纤维化程度明显相关,研究显示PNPLA3 I148M与酒精性肝硬化进程及其所致肝细胞癌的临床转归及预后、慢性丙型肝炎的临床转归显著相关.PNPLA3 I148M在肝病进展中扮演重要角色,可作为肝细胞癌的一个独立危险因素.Patatin-like phospholipase domain containing 3（PNPLA3）, also called adiponutrin, is mainly expressed in the hepatocellular membrane and involved in lipid metabolism. The rs738409 genetic variant causes an isoleucine-to-methionine substitution at amino acid position 148（I148M）. Recently, genome-wide association studies have described associations of PNPLA3 I148 M with plasma liver enzyme levels, steatosis and fibrosis severity. Studies found that PNPLA3 I148 M is associated with progression of alcoholic liver cirrhosis, clinical outcome and prognosis of alcohol related hepatocellular carcinoma（HCC）, and clinical outcomes of chronic hepatitis C. PNPLA3 I148 M plays an important role in liver disease progression, which can be an independent risk factor for HCC.

关 键 词：肝硬化 肝细胞癌 含patatin样磷脂酶域3 

分 类 号：R735.7[医药卫生—肿瘤]