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非酒精性脂肪性肝病的遗传多态性:发病机制和疾病进展的线索。

Genetic polymorphisms in non-alcoholic fatty liver disease: clues to pathogenesis and disease progression.

出版信息

World J Gastroenterol. 2009 Dec 28;15(48):6023-7. doi: 10.3748/wjg.15.6023.

Abstract

The spectrum of non-alcoholic fatty liver disease (NAFLD) ranges from simple steatosis through steatohepatitis to advanced fibrosis and cirrhosis. Although the reason why only a minority of patients develop progressive forms of disease still remains largely unclear, recent research has identified genetic factors as a possible basis for this variation in disease presentation. Most of the studies have been focused on finding associations between advanced disease forms and selected single nucleotide polymorphisms in genes encoding various proteins involved in disease pathogenesis. Although there are many limitations regarding the study design and interpretation of published data, further carefully planned studies together with implementation of new genetic technologies will likely bring new insights into disease pathogenesis and potential benefits to the management of patients with NAFLD.

摘要

非酒精性脂肪性肝病(NAFLD)的范围从单纯性脂肪变性到脂肪性肝炎、肝纤维化和肝硬化。尽管只有少数患者发展为进行性疾病形式的原因仍在很大程度上不清楚,但最近的研究已经确定遗传因素可能是疾病表现差异的基础。大多数研究都集中在寻找与晚期疾病形式相关的关联和选定的单核苷酸多态性,这些多态性与参与疾病发病机制的各种蛋白质的基因编码有关。尽管关于研究设计和已发表数据的解释存在许多限制,但进一步精心规划的研究以及新的遗传技术的实施,可能会为疾病发病机制带来新的认识,并为 NAFLD 患者的管理带来潜在的益处。

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