Research progress, challenges and perspectives on PNPLA3 and its variants in Liver Diseases

作者：Hongjiao Xiang, Zecheng Wu, Junmin Wang, Tao Wu · 发表于：Journal of Cancer · 年份：2021 · DOI：10.7150/jca.57951 · 被引用次数：14 · 研究领域：Liver Disease Diagnosis and Treatment、Endoplasmic Reticulum Stress and Disease、Glycosylation and Glycoproteins Research

The human patatin-like phospholipase domain-containing 3 gene (PNPLA3) is highly expressed in liver and adipose tissue and encodes a transmembrane polypeptide chain containing 481 amino acids. The I148M variant of PNPLA3 is a single nucleotide polymorphism, which is related to a variety of liver and cardiovascular diseases and their complications (such as non-alcoholic fatty liver disease, liver fibrosis, coronary artery disease). This review mainly describes the pathophysiological effects of PNPLA3 and its variants, and their roles in the progression of liver disease and its complications.