title: Significance of genetic polymorphisms in patients with nonalcoholic fatty liver disease.
abstract: Because of recent advances in genetic research such as genome-wide association studies, the underlying genetic mechanisms of nonalcoholic fatty liver disease (NAFLD) pathophysiology have been elucidated. Here, we present a review of the current literature on the impact of genetic polymorphisms in patients with NAFLD. These genetic polymorphisms, which regulate lipid metabolism, glucose metabolism, and the renin-angiotensin system, are involved in NAFLD onset, steatosis, inflammation, fibrosis, and hepatocellular carcinoma (HCC). Among these genetic polymorphisms, many studies and meta-analyses have demonstrated that position 148 (rs738409 C/G) of the patatin-like phospholipase domain-containing protein (PNPLA3) is a genetic factor associated with NAFLD pathophysiological features, such as hepatic fat level, hepatic inflammation, fibrosis, and HCC. However, the impact of genetic polymorphisms on NAFLD pathophysiology appears to differ among ethnic groups. Therefore, further studies with larger sample sizes are needed for each ethnic group.
authors.affiliation: Department of Gastroenterology and Hepatology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan. miyaaki-hi@umin.ac.jp.
authors.forename: Hisamitsu
authors.initials: H
authors.lastname: Miyaaki
authors.affiliation: Department of Gastroenterology and Hepatology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nakao
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008049:Lipase / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D065626:Non-alcoholic Fatty Liver Disease / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
chemical_list: D008049:Lipase; D008565:Membrane Proteins; C533682:PNPLA3 protein, human; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
keywords: Fibrosis; Genetic polymorphism; Inflammation; NAFLD; NASH; Steatosis