2型糖尿病肾病的遗传学:候选基因研究和全基因组关联研究(GWAS)

IF 1.8 4区 综合性期刊 Q2 MULTIDISCIPLINARY SCIENCES Journal of the Indian Institute of Science Pub Date : 2023-07-04 DOI:10.1007/s41745-023-00401-9
Saravanan Yogaprabhu, Dhanasekaran Bodhini, Janaki Sneha, Ranjit Mohan Anjana, Viswanathan Mohan, Venkatesan Radha
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引用次数: 0

摘要

2型糖尿病(T2D)是一种多因素疾病,根据国际糖尿病联合会2021年地图集,预计到2030年,2型糖尿病患者将从5.37亿增加到6.43亿。T2D的主要微血管并发症之一是糖尿病肾病(DKD),早期称为糖尿病肾病,可导致终末期肾病(ESRD)和肾衰竭。ESRD患者需要肾脏透析或移植,这在世界范围内造成了社会经济负担。在世界范围内,DKD在T2D中的患病率为25-40%,因此研究DKD的发病机制将有助于了解和治疗该疾病。研究表明,遗传因素(基因)在DKD的发病和进展中起着至关重要的作用。使用候选基因方法和全基因组关联研究(GWAS)发现许多基因与DKD相关。GWAS对病例和对照组的大量标记进行基因分型,并找出与疾病或性状显著相关的遗传标记/多态性。这篇综述的重点是从2003年至2022年进行的这些GWA研究中获得的DKD的遗传理解,也涵盖了从候选基因方法中鉴定的基因。
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Genetics of Diabetic Kidney Disease in Type 2 Diabetes: Candidate Gene Studies and Genome-Wide Association Studies (GWAS)

Type 2 diabetes (T2D) is a multifactorial disorder which is predicted to rise from 537 to 643 million by 2030 according to International Diabetes Federation Atlas 2021. One of the major microvascular complications of T2D is diabetic kidney disease (DKD), earlier known as diabetic nephropathy which leads to end-stage renal disease (ESRD) and kidney failure. Kidney dialysis or transplantation is required for the ESRD patients which poses a socioeconomic burden worldwide. The prevalence of DKD in T2D is 25–40% worldwide and hence it is important to study the pathogenesis of DKD which will aid in understanding and treating the disease. It has been shown that hereditary factors (genes) play a crucial role in the pathogenesis and progression of DKD. A number of genes have been found to be associated with DKD using candidate gene approach and genome-wide association studies (GWAS). GWAS genotypes a large number of markers across cases and controls and finds out the genetic markers/polymorphisms which are significantly associated with the disease or a trait. This review focuses on the genetic understanding of DKD obtained from these GWA studies conducted between 2003 and 2022 and also covers the genes identified from the candidate gene approach.

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来源期刊
Journal of the Indian Institute of Science
Journal of the Indian Institute of Science MULTIDISCIPLINARY SCIENCES-
CiteScore
4.30
自引率
0.00%
发文量
75
期刊介绍: Started in 1914 as the second scientific journal to be published from India, the Journal of the Indian Institute of Science became a multidisciplinary reviews journal covering all disciplines of science, engineering and technology in 2007. Since then each issue is devoted to a specific topic of contemporary research interest and guest-edited by eminent researchers. Authors selected by the Guest Editor(s) and/or the Editorial Board are invited to submit their review articles; each issue is expected to serve as a state-of-the-art review of a topic from multiple viewpoints.
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