Fathi Dizaji Behdokht
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Diabetes Metab Syndr. 2018 Sep;12(5):783-789. doi: 10.1016/j.dsx.2018.04.009. Epub 2018 Apr 11.
Metabolic syndrome is the aggregation of cardiovascular risk factors that increases the risk of type 2 diabetes and cardiovascular diseases. Family and twin studies, heritability spectrum for its components and different prevalence among ethnicities, have provided genetic susceptibility to the metabolic syndrome. The investigations of genetic base for the disorder have recognized numerous chromosomes, various DNA polymorphisms in candidate genes and many gene variants, that are associated with metabolic syndrome as an entity or its traits, which mostly are related to lipid metabolism. In addition, recent finding of the role of rare variants, epigenetic mechanisms, non-coding RNAs and evaluating the function of genes in molecular networks have improved our knowledge. However, a common genetic basis explaining the co-occurrence of its components has not been identified and more researches are essential.
代谢综合征是心血管危险因素的聚集,会增加2型糖尿病和心血管疾病的风险。家族和双胞胎研究、其各组成部分的遗传度谱以及不同种族间的患病率差异,都表明代谢综合征存在遗传易感性。对该疾病遗传基础的研究已识别出许多染色体、候选基因中的各种DNA多态性以及许多基因变体,它们与作为一个整体的代谢综合征或其特征相关,其中大多数与脂质代谢有关。此外,最近对罕见变体的作用、表观遗传机制、非编码RNA的发现以及在分子网络中评估基因功能的研究,增进了我们的认识。然而,尚未确定一个能解释其各组成部分共同出现的共同遗传基础,更多的研究至关重要。