Unraveling the molecular genetic basis of type 2 diabetes

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-07-31 DOI:10.1016/j.genrep.2024.101993

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Abstract

Type 2 Diabetes (T2D) as a global health challenge is characterized by insulin resistance and impaired glucose regulation. This condition has a significant impact on both human health and the global economy. Insulin plays a crucial role as a peptide hormone in regulating glucose metabolism throughout the body. Insulin resistance (IR) as one of the common implications of type 2 diabetes occurs when the body's response to insulin is disrupted, leading to dysfunction in various molecular pathways within tissues targeted by insulin. Identifying the genetic factors involved in T2D is a crucial focus of diabetes research to better comprehend its mechanisms and complications, for treatment, and prevention. Progress in genetic research during the 1980s allowed researchers to identify genetic markers associated with this hereditary trait. Genome Wide Association Studies (GWAS) have been instrumental in pinpointing genetic loci associated with various complications of diabetes. Over 300 loci have been linked to T2D, accounting for more than 19 % of the risk.

The present review manuscript aims to examine the complex interplay between genetic factors and T2D development. We review the current knowledge regarding the genetic basis, examining predisposing genetic variants, epigenetic modifications, and gene-environment interactions implicated in the disease pathogenesis. Understanding the underlying genetic mechanisms of T2D opens new avenues for personalized therapies and preventive strategies.

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揭示 2 型糖尿病的分子遗传基础

2 型糖尿病（T2D）是一项全球性健康挑战，其特点是胰岛素抵抗和葡萄糖调节功能受损。这种病症对人类健康和全球经济都有重大影响。胰岛素作为一种肽类激素，在调节全身葡萄糖代谢方面发挥着至关重要的作用。胰岛素抵抗（IR）是 2 型糖尿病的常见影响之一，当机体对胰岛素的反应发生紊乱时，就会导致胰岛素靶组织内的各种分子通路功能失调。为了更好地了解糖尿病的发病机制和并发症，更好地进行治疗和预防，确定与 T2D 有关的遗传因素是糖尿病研究的一个关键重点。20 世纪 80 年代，遗传学研究取得进展，研究人员得以确定与这一遗传特征相关的遗传标记。全基因组关联研究（GWAS）在确定与糖尿病各种并发症相关的基因位点方面发挥了重要作用。本综述手稿旨在研究遗传因素与 T2D 发病之间复杂的相互作用。我们回顾了有关遗传基础的现有知识，研究了易感基因变异、表观遗传修饰以及与疾病发病机制有关的基因-环境相互作用。了解 T2D 的潜在遗传机制为个性化疗法和预防策略开辟了新途径。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.