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代谢综合征的遗传学

Genetics of metabolic syndrome.

作者信息

Stančáková Alena, Laakso Markku

机构信息

Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.

出版信息

Rev Endocr Metab Disord. 2014 Dec;15(4):243-52. doi: 10.1007/s11154-014-9293-9.

Abstract

Metabolic syndrome (MetS) is a cluster of metabolic traits associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. Central obesity and insulin resistance are thought to play key roles in the pathogenesis of the MetS. The MetS has a significant genetic component, and therefore linkage analysis, candidate gene approach, and genome-wide association (GWA) studies have been applied in the search of gene variants for the MetS. A few variants have been identified, located mostly in or near genes regulating lipid metabolism. GWA studies for the individual components of the MetS have reported several loci having pleiotropic effects on multiple MetS-related traits. Genetic studies have provided so far only limited evidence for a common genetic background of the MetS. Epigenetic factors (DNA methylation and histone modification) are likely to play important roles in the pathogenesis of the MetS, and they might mediate the effects of environmental exposures on the risk of the MetS. Further research is needed to clarify the role of genetic variation and epigenetic mechanisms in the development of the MetS.

摘要

代谢综合征(MetS)是一组与心血管疾病和2型糖尿病风险增加相关的代谢特征。中心性肥胖和胰岛素抵抗被认为在MetS的发病机制中起关键作用。MetS具有显著的遗传成分,因此连锁分析、候选基因方法和全基因组关联(GWA)研究已被用于寻找MetS的基因变异。已经鉴定出一些变异,大多位于调节脂质代谢的基因内或附近。针对MetS各个组成部分的GWA研究报告了几个对多个与MetS相关的性状具有多效性影响的基因座。到目前为止,遗传研究仅为MetS的共同遗传背景提供了有限的证据。表观遗传因素(DNA甲基化和组蛋白修饰)可能在MetS的发病机制中起重要作用,并且它们可能介导环境暴露对MetS风险的影响。需要进一步研究以阐明遗传变异和表观遗传机制在MetS发生发展中的作用。

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