Research progress, challenges and perspectives on PNPLA3 and its variants in Liver Diseases
Hongjiao Xiang, Zecheng Wu, Junmin Wang, Tao Wu
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.
Topics & Concepts
Fatty liverLiver diseaseCoronary artery diseaseAdipose tissueBioinformaticsPathophysiologyGeneDiseaseBiologySingle-nucleotide polymorphismTransmembrane proteinMedicineComputational biologyGeneticsPathologyInternal medicineEndocrinologyGenotypeReceptorLiver Disease Diagnosis and TreatmentEndoplasmic Reticulum Stress and DiseaseGlycosylation and Glycoproteins Research