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候选基因中影响非酒精性脂肪性肝病进展的遗传变异。

Genetic variants in candidate genes influencing NAFLD progression.

机构信息

Department of Biomedical Sciences, University of Catania, Via Androne, 83, 95124 Catania, Italy.

出版信息

J Mol Med (Berl). 2012 Feb;90(2):105-18. doi: 10.1007/s00109-011-0803-x. Epub 2011 Sep 6.

Abstract

Nonalcoholic fatty liver disease (NAFLD) is a metabolic disorder including simple steatosis and nonalcoholic steatohepatitis (NASH). Advanced stages of NASH result ultimately in fibrosis, cirrhosis, and hepatocarcinoma. A diagnosis of NASH entails an increased risk of both liver-related and cardiovascular mortality as worsening of the metabolic syndrome. Because of its escalation, many investigations have been performed to elucidate the pathophysiologic origins of the disease progression. Human epidemiologic studies describing polymorphisms in a number of genes involved in metabolic dysfunctions have contributed to clarify the causes leading to the disease evolution. In this review, we attempt to outline critically the most recently identified genetic variants in NAFLD patients to identify possible risk factors promoting the progression of the disease. The evaluation of altered genotypes together with other clinical variables may facilitate the clinical management of these patients.

摘要

非酒精性脂肪性肝病(NAFLD)是一种代谢紊乱疾病,包括单纯性脂肪变性和非酒精性脂肪性肝炎(NASH)。NASH 的晚期阶段最终会导致纤维化、肝硬化和肝癌。NASH 的诊断意味着肝脏相关和心血管死亡率的风险增加,因为代谢综合征的恶化。由于其不断升级,许多研究已经进行,以阐明疾病进展的病理生理起源。描述参与代谢功能障碍的许多基因中的多态性的人类流行病学研究有助于阐明导致疾病演变的原因。在这篇综述中,我们试图批判性地概述 NAFLD 患者中最近发现的遗传变异,以确定可能促进疾病进展的风险因素。改变的基因型与其他临床变量的评估可能有助于这些患者的临床管理。

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