Exfoliation syndrome genetics in the era of post-GWAS

IF 1.5 4区心理学 Q4 NEUROSCIENCES

Vision Research Pub Date : 2024-11-16 DOI:10.1016/j.visres.2024.108518

Ola A. Elsayed , Jingwen Cai , Yutao Liu

引用次数: 0

Abstract

Exfoliation syndrome (XFS), or pseudoexfoliation syndrome, is considered a systemic disorder that leads to glaucoma with progressive visual field loss. A better insight into the underlying pathogenic mechanism will help diagnose the disease and prevent and slow progression. Here, we provide an overview of disease pathogenesis in the light of GWAS and multi-omics research. We discuss possible environmental interactions related to XFS. We investigate the potential interactions in differentially expressed genes from RNA-Seq by using Ingenuity Pathway Analysis. MAPK pathway was identified as the top network of these genes. Further investigation is needed to verify our results in vivo. It is necessary to establish an animal model mimicking exfoliation syndrome phenotypes.

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后 GWAS 时代的剥脱综合征遗传学。

剥脱综合征（XFS）或假性剥脱综合征被认为是一种导致青光眼并伴有进行性视野缺损的全身性疾病。更好地了解其潜在的致病机制将有助于诊断该疾病并预防和延缓其发展。在此，我们根据全球基因组分析和多组学研究概述了该疾病的发病机制。我们讨论了与 XFS 相关的可能的环境相互作用。我们利用 Ingenuity Pathway Analysis 对 RNA-Seq 差异表达基因中的潜在相互作用进行了研究。MAPK通路被确定为这些基因的顶级网络。要在体内验证我们的结果，还需要进一步的研究。有必要建立一个模仿剥脱综合征表型的动物模型。

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

Vision Research 医学-神经科学

CiteScore

3.70

自引率

16.70%

发文量

111

审稿时长

66 days

期刊介绍： Vision Research is a journal devoted to the functional aspects of human, vertebrate and invertebrate vision and publishes experimental and observational studies, reviews, and theoretical and computational analyses. Vision Research also publishes clinical studies relevant to normal visual function and basic research relevant to visual dysfunction or its clinical investigation. Functional aspects of vision is interpreted broadly, ranging from molecular and cellular function to perception and behavior. Detailed descriptions are encouraged but enough introductory background should be included for non-specialists. Theoretical and computational papers should give a sense of order to the facts or point to new verifiable observations. Papers dealing with questions in the history of vision science should stress the development of ideas in the field.