Miyaaki Hisamitsu, Nakao Kazuhiko
Department of Gastroenterology and Hepatology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Clin J Gastroenterol. 2017 Jun;10(3):201-207. doi: 10.1007/s12328-017-0732-5. Epub 2017 Mar 13.
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.
由于全基因组关联研究等基因研究领域的最新进展，非酒精性脂肪性肝病（NAFLD）病理生理学的潜在遗传机制已得到阐明。在此，我们对当前有关NAFLD患者基因多态性影响的文献进行综述。这些调节脂质代谢、葡萄糖代谢和肾素 - 血管紧张素系统的基因多态性与NAFLD的发病、脂肪变性、炎症、纤维化以及肝细胞癌（HCC）有关。在这些基因多态性中，许多研究和荟萃分析表明，含patatin样磷脂酶结构域蛋白（PNPLA3）的第148位（rs738409 C/G）是与NAFLD病理生理特征相关的遗传因素，如肝脏脂肪水平、肝脏炎症、纤维化和HCC。然而，基因多态性对NAFLD病理生理学的影响在不同种族群体中似乎有所不同。因此，需要针对每个种族群体开展更大样本量的进一步研究。
