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

Hongjiao Xiang; Zecheng Wu; Junmin Wang; Tao Wu

doi:10.7150/jca.57951

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

J Cancer. 2021 Aug 13;12(19):5929-5937. doi: 10.7150/jca.57951. eCollection 2021.

Authors

Hongjiao Xiang¹, Zecheng Wu¹, Junmin Wang¹, Tao Wu¹

Affiliation

¹ Institute of Interdisciplinary Integrative Medicine Research, Shanghai University of Traditional Chinese Medicine, Shanghai 201203, China.

Abstract

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.

Keywords: NAFLD; PNPLA3; hepatocellular carcinoma; liver fibrosis; type 2 diabetes.

Publication types

Review