Genetic aspects of type 2 diabetes mellitus

T. Kiseleva, F. Valeeva, D. R. Islamova, M. S. Medvedeva
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Abstract

Type 2 diabetes mellitus (DM2) is a polygenic, multifactorial disease resulting from the interaction of genetic, epigenetic and environmental factors. Given the significant genetic and genomic research in this area, the role of genetic factors in the pathogenesis of DM2 is becoming increasingly clear. The review presents current information in the genetics of DM2, describes the technology of genome wide-associated system (GWAS) based on high-resolution biochips for the simultaneous analysis of thousands of genetic variants in a large number of patients. Due to the use of genome-wide studies, about 100 genes and more than 700 polymorphisms associated with T2DM have been described. The review provides a description of the most common genes and their polymorphisms (TCF7L2, KCNJ11, PPARG) identified by the GWAS method and showing a strong association with T2DM in various populations. In addition, the article notes the role of the ADRB2 gene, whose polymorphisms can also contribute to the development of carbohydrate metabolism disorders. The results of a study on the assessment of the relationship between the rs1042714 ADRB2 polymorphism and indicators of carbohydrate metabolism in different periods of life of overweight and obese women are presented.
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2型糖尿病的遗传方面
2型糖尿病(DM2)是一种遗传、表观遗传和环境因素相互作用的多基因、多因素疾病。鉴于该领域的遗传学和基因组学研究的显著性,遗传因素在DM2发病机制中的作用越来越清楚。本文综述了DM2遗传学的最新进展,介绍了基于高分辨率生物芯片的基因组宽相关系统(GWAS)技术,该技术可同时分析大量患者的数千种遗传变异。由于使用全基因组研究,大约100个基因和700多个与T2DM相关的多态性已被描述。该综述描述了通过GWAS方法鉴定的最常见基因及其多态性(TCF7L2, KCNJ11, PPARG),并显示了与不同人群中T2DM的强烈关联。此外,文章还注意到ADRB2基因的作用,其多态性也可能导致碳水化合物代谢紊乱的发生。本文报道了超重和肥胖女性不同生命时期rs1042714 ADRB2多态性与碳水化合物代谢指标关系的评估研究结果。
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