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糖尿病肾病中的基因组学:2024年最新进展

Genomics in Diabetic Kidney Disease: A 2024 Update.

作者信息

Roumeliotis Stefanos, Divani Maria, Stamellou Eleni, Liakopoulos Vassilios

机构信息

Second Department of Nephrology, School of Medicine, AHEPA Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Department of Nephrology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.

出版信息

Curr Genomics. 2024 May 31;25(3):153-157. doi: 10.2174/0113892029300247240325080421. Epub 2024 Apr 2.

Abstract

Diabetic Kidney Disease (DKD) remains the leading cause of Chronic and End Stage Kidney Disease (ESKD) worldwide, with an increasing epidemiological burden. However, still, the disease awareness remains low, early diagnosis is difficult, and therapeutic management is ineffective. These might be attributed to the fact that DKD is a highly heterogeneous disease, with disparities and variability in clinical presentation and progression patterns. Besides environmental risk factors, genetic studies have emerged as a novel and promising tool in the field of DKD. Three decades ago, family studies first reported that inherited genetic factors might confer significant risk to DKD development and progression. During the past decade, genome-wide association studies (GWASs) screening the whole genome in large and multi-ethnic population-based cohorts identified genetic risk variants associated with traits defining DKD in both type 1 and 2 diabetes. Herein, we aim to summarize the existing data regarding the progress in the field of genomics in DKD, present how the revolution of GWAS expanded our understanding of pathophysiologic disease mechanisms and finally, suggest potential future directions.

摘要

糖尿病肾病(DKD)仍是全球慢性肾脏病和终末期肾病(ESKD)的主要病因,其流行病学负担日益加重。然而,该病的知晓率仍然较低,早期诊断困难,治疗管理效果不佳。这些可能归因于DKD是一种高度异质性疾病,其临床表现和进展模式存在差异和变异性。除环境风险因素外,基因研究已成为DKD领域一种新颖且有前景的工具。三十年前,家族研究首次报道遗传因素可能会给DKD的发生和发展带来重大风险。在过去十年中,全基因组关联研究(GWAS)在大型多民族人群队列中对全基因组进行筛查,确定了与1型和2型糖尿病中定义DKD的特征相关的遗传风险变异。在此,我们旨在总结关于DKD基因组学领域进展的现有数据,介绍GWAS的变革如何扩展了我们对疾病病理生理机制的理解,并最终提出潜在的未来研究方向。

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