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非酒精性脂肪性肝病中的遗传背景。

The genetic backgrounds in nonalcoholic fatty liver disease.

作者信息

Seko Yuya, Yamaguchi Kanji, Itoh Yoshito

机构信息

Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.

出版信息

Clin J Gastroenterol. 2018 Apr;11(2):97-102. doi: 10.1007/s12328-018-0841-9. Epub 2018 Feb 28.

Abstract

Nonalcoholic fatty liver disease (NAFLD) is the most prevalent chronic liver disease worldwide. Nonalcoholic steatohepatitis (NASH), a severe form of NAFLD, can lead to hepatocellular carcinoma (HCC) and hepatic failure. The development and progression of NAFLD are determined by environmental and genetic factors. The effect of genetic factors has been demonstrated by familial studies, twin studies and several cross-sectional studies. In the past 10 years, genome-wide association studies have revealed several single nucleotide polymorphisms (SNPs) associated with the pathology of NAFLD. Among them, the Patatin-like phospholipase domain-containing 3 (PNPLA3) gene variant I148M showed a strong relationship with the development and progression of NAFLD, NASH, and NAFLD-related HCC. The transmembrane 6 superfamily member 2 (TM6SF2) gene variant E167 K was also associated with NAFLD, and it has a relationship with cardiovascular disease. Furthermore, several genes have been proposed as candidate genes to be associated with NAFLD based on case-control studies. We conducted a comprehensive literature search and review on the genetic background of NAFLD.

摘要

非酒精性脂肪性肝病(NAFLD)是全球最普遍的慢性肝病。非酒精性脂肪性肝炎(NASH)是NAFLD的一种严重形式,可导致肝细胞癌(HCC)和肝衰竭。NAFLD的发生和发展由环境和遗传因素决定。家族研究、双胞胎研究和多项横断面研究已证实遗传因素的作用。在过去10年中,全基因组关联研究已经揭示了几个与NAFLD病理相关的单核苷酸多态性(SNP)。其中,含Patatin样磷脂酶结构域3(PNPLA3)基因变体I148M与NAFLD、NASH以及NAFLD相关HCC的发生和发展密切相关。跨膜6超家族成员2(TM6SF2)基因变体E167K也与NAFLD相关,并且与心血管疾病有关。此外,基于病例对照研究,已有几个基因被提出作为与NAFLD相关的候选基因。我们对NAFLD的遗传背景进行了全面的文献检索和综述。

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