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揭示遗传学在糖尿病性视网膜病变发病机制中的作用。

Unraveling the role of genetics in the pathogenesis of diabetic retinopathy.

机构信息

Center for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, Augusta, GA, 30912, Georgia.

Department of Population Health Sciences, Medical College of Georgia, Augusta University, Augusta, GA, 30912, Georgia.

出版信息

Eye (Lond). 2019 Apr;33(4):534-541. doi: 10.1038/s41433-019-0337-y. Epub 2019 Jan 24.

Abstract

Diabetic retinopathy (DR) is a microvascular disease of the retina and the leading cause of visual disability in diabetic patients. Genetic factors have shown to play a pivotal role in DR onset, and several candidate genes have been associated with its progression. A literature search was performed to identify the genes known to be associated with DR through linkage analysis, candidate gene association, and genome-wide association studies (GWAS). A further literature search was performed to discover their potential connection with various biological pathways. A total of 65 genes were found and several of these genes belong to major signaling pathways known to play a significant role in DR, including systemic inflammation, angiogenesis, and neurogenesis. A comprehensive analysis presented in this review will be helpful in unraveling the role of genetics in the pathogenesis of DR.

摘要

糖尿病视网膜病变(DR)是一种视网膜的微血管疾病,也是糖尿病患者视力障碍的主要原因。遗传因素已被证明在 DR 的发病中起着关键作用,并且已经有几个候选基因与它的进展有关。通过连锁分析、候选基因关联和全基因组关联研究(GWAS),进行了文献检索以确定已知与 DR 相关的基因。进一步的文献检索发现了它们与各种生物途径的潜在联系。共发现了 65 个基因,其中一些基因属于主要信号通路,这些信号通路在 DR 中起着重要作用,包括全身炎症、血管生成和神经发生。本文综述中进行的综合分析将有助于揭示遗传在 DR 发病机制中的作用。

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