PNPLA3, a genetic marker of progressive liver disease, still hiding its metabolic function?

被引：20

作者：

Dubuquoy, Celine ^{[1
,2
,3
]}

Burnol, Anne-Francoise ^{[1
,2
,3
]}

Moldes, Marthe ^{[1
,2
,3
]}

机构：

[1] INSERM, U1016, Inst Cochin, Paris, France

[2] CNRS, UMR8104, Paris, France

[3] Univ Paris 05, Paris, France

来源：

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY | 2013年 / 37卷 / 01期

关键词：

FATTY LIVER; ADIPONUTRIN GENE; HISTOLOGICAL SEVERITY; HEPATIC STEATOSIS; PATATIN; POLYMORPHISM; EXPRESSION; I148M; ASSOCIATION; VARIANT;

D O I：

10.1016/j.clinre.2012.06.014

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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. (C) 2012 Elsevier Masson SAS. All rights reserved.

引用

页码：30 / 35

页数：6

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