Update on genetics and epigenetics in metabolic associated fatty liver disease.
Update on genetics and epigenetics in metabolic associated fatty liver disease.
复制标题
代谢相关脂肪肝疾病的遗传学和表观遗传学最新进展
DOI：
10.1177/20420188221132138
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发表时间：
2022
影响因子：
3.8
通讯作者：
Gao, Xin
中科院分区：
文献类型：
--
作者：
Zhu, Xiaopeng;Xia, Mingfeng;Gao, Xin
非酒精性脂肪性肝病（NAFLD）正在成为全球最常见的慢性肝病。建议用代谢（功能障碍）相关性脂肪肝（MAFLD）取代NAFLD的命名。对于代谢功能障碍的个体，多种NAFLD相关因素也有助于MAFLD的发展和进展，包括遗传学和表观遗传学。全基因组关联研究（GWAS）和全外显子组关联研究（EWAS）的应用揭示了MAFLD的单核苷酸多态性（SNPs）。除了PNPLA 3、TM 6SF 2和GCKR中的经典SNPs外，最近还发现了一些新的SNPs，这些SNPs有助于肝脏脂肪变性的发病机制。表观遗传因素包括DNA甲基化、组蛋白修饰、非编码RNA调节和RNA甲基化也在MAFLD中起关键作用。DNA甲基化是报道最多的表观遗传修饰。开发一种非侵入性生物标志物来区分代谢性脂肪性肝炎（MASH）或肝纤维化正在进行中。本文就NAFLD/MAFLD的遗传和表观遗传因素的最新研究进展作一综述，以期为MAFLD的治疗提供潜在的线索。
Nonalcoholic fatty liver disease (NAFLD) is becoming the most frequent chronic liver disease worldwide. Metabolic (dysfunction) associated fatty liver disease (MAFLD) is suggested to replace the nomenclature of NAFLD. For individuals with metabolic dysfunction, multiple NAFLD-related factors also contribute to the development and progression of MAFLD including genetics and epigenetics. The application of genome-wide association study (GWAS) and exome-wide association study (EWAS) uncovers single-nucleotide polymorphisms (SNPs) in MAFLD. In addition to the classic SNPs in PNPLA3, TM6SF2, and GCKR, some new SNPs have been found recently to contribute to the pathogenesis of liver steatosis. Epigenetic factors involving DNA methylation, histone modifications, non-coding RNAs regulations, and RNA methylation also play a critical role in MAFLD. DNA methylation is the most reported epigenetic modification. Developing a non-invasion biomarker to distinguish metabolic steatohepatitis (MASH) or liver fibrosis is ongoing. In this review, we summarized and discussed the latest progress in genetic and epigenetic factors of NAFLD/MAFLD, in order to provide potential clues for MAFLD treatment.
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影响因子：
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作者：
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通讯作者：
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