The genetic backgrounds in nonalcoholic fatty liver disease

被引：41
作者：
Seko Y. [1 ]
Yamaguchi K. [1 ]
Itoh Y. [1 ]
机构：
[1] Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto
来源：
Clinical Journal of Gastroenterology | 2018年 / 11卷 / 2期
关键词：
Genome-wide association study (GWAS); Glucokinase regulator (GCKR); Nonalcoholic fatty liver disease (NAFLD); PNPLA3; TM6SF2;
D O I：
10.1007/s12328-018-0841-9
中图分类号：
学科分类号：
摘要：
Nonalcoholic fatty liver disease (NAFLD) is the most prevalent chronic liver disease worldwide. Nonalcoholic steatohepatitis (NASH), a severe form of NAFLD, can lead to hepatocellular carcinoma (HCC) and hepatic failure. The development and progression of NAFLD are determined by environmental and genetic factors. The effect of genetic factors has been demonstrated by familial studies, twin studies and several cross-sectional studies. In the past 10 years, genome-wide association studies have revealed several single nucleotide polymorphisms (SNPs) associated with the pathology of NAFLD. Among them, the Patatin-like phospholipase domain-containing 3 (PNPLA3) gene variant I148M showed a strong relationship with the development and progression of NAFLD, NASH, and NAFLD-related HCC. The transmembrane 6 superfamily member 2 (TM6SF2) gene variant E167 K was also associated with NAFLD, and it has a relationship with cardiovascular disease. Furthermore, several genes have been proposed as candidate genes to be associated with NAFLD based on case–control studies. We conducted a comprehensive literature search and review on the genetic background of NAFLD. © 2018, Japanese Society of Gastroenterology.
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页码：97 / 102
页数：5
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