title: PNPLA3, a genetic marker of progressive liver disease, still hiding its metabolic function?
abstract: Non-alcoholic fatty liver disease (NAFLD) is an emerging epidemic disease. It represents a large spectrum of liver diseases, and affects both adults and children. The etiology of NAFLD is multifactorial. Indeed, several events such as caloric imbalance including sedentary lifestyle, obesity and/or a predisposing genetic background are key players in the increasing risk for NAFLD development and its progression. Recently, a sequence variation within the gene encoding for patatin-like phospholipase containing 3 (PNPLA3, rs738409) was found to modulate steatosis, inflammation and fibrosis in NAFLD. It was also demonstrated as a novel genetic marker associated with progressive ALD (alcoholic liver disease). In this mini-review, we summarize the current knowledge on (i) PNPLA3 variant(s) in the pathogenesis of liver diseases, and (ii) PNPLA3 gene regulation and potential function in liver.
authors.affiliation: Inserm, U1016, Institut Cochin, Paris, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Dubuquoy
authors.forename: Anne-Françoise
authors.initials: AF
authors.lastname: Burnol
authors.forename: Marthe
authors.initials: M
authors.lastname: Moldes
mesh_terms: D018450:Disease Progression; D005234:Fatty Liver / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008049:Lipase / Q000235:genetics* / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D065626:Non-alcoholic Fatty Liver Disease; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
chemical_list: D005819:Genetic Markers; D008049:Lipase; D008565:Membrane Proteins; C533682:PNPLA3 protein, human; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent