Sookoian Silvia, Pirola Carlos J
Department of Clinical and Molecular Hepatology, Institute of Medical Research A Lanari-IDIM, University of Buenos Aires - National Scientific and Technical Research Council (CONICET), Ciudad Autónoma de Buenos Aires, Argentina.
Department of Molecular Genetics and Biology of Complex Diseases, Institute of Medical Research A Lanari-IDIM, University of Buenos Aires - National Scientific and Technical Research Council (CONICET), Ciudad Autónoma de Buenos Aires, Argentina.
Clin Mol Hepatol. 2017 Mar;23(1):1-12. doi: 10.3350/cmh.2016.0109. Epub 2017 Mar 9.
Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease whose prevalence has reached global epidemic proportions. Although the disease is relatively benign in the early stages, when severe clinical forms, including nonalcoholic steatohepatitis (NASH), cirrhosis and even hepatocellular carcinoma, occur, they result in worsening the long-term prognosis. A growing body of evidence indicates that NAFLD develops from a complex process in which many factors, including genetic susceptibility and environmental insults, are involved. In this review, we focused on the genetic component of NAFLD, with special emphasis on the role of genetics in the disease pathogenesis and natural history. Insights into the topic of the genetic susceptibility in lean individuals with NAFLD and the potential use of genetic tests in identifying individuals at risk are also discussed.
非酒精性脂肪性肝病(NAFLD)是最常见的慢性肝病,其患病率已达到全球流行程度。尽管该疾病在早期相对良性,但当出现严重的临床形式,包括非酒精性脂肪性肝炎(NASH)、肝硬化甚至肝细胞癌时,会导致长期预后恶化。越来越多的证据表明,NAFLD是由一个复杂的过程发展而来,其中涉及许多因素,包括遗传易感性和环境损伤。在本综述中,我们重点关注NAFLD的遗传成分,特别强调遗传学在疾病发病机制和自然史中的作用。还讨论了对非肥胖NAFLD个体遗传易感性这一主题的见解以及基因检测在识别高危个体中的潜在用途。