Genome-wide Association Studies of REST Gene Associated Neurological Diseases/traits with Related Single Nucleotide Polymorphisms.

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Current neurovascular research Pub Date : 2023-01-01 DOI:10.2174/1567202620666230727153306

Sagor Kumar Roy, Jingjing Wang, Seidu A Richard, Yuming Xu

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引用次数: 1

Abstract

Background: Genome-wide association studies (GWAS) have been used to explore the connections between genotypes and phenotypes by comparing the genotype frequencies of genetic changes in individuals with similar origins but distinct traits.

Objectives: The aim is to employ the GWAS catalog to identify and investigate the various correlations between genotypes and phenotypes of the REST gene.

Methods: In this study, we utilized a large dataset of GWAS comprising 62,218,976 individuals in 112 studies and 122 associations with 122 traits (www.ebi.ac.uk/gwas/genes/REST) from European, Asian, Hispanic, African ancestry up to 28 February 2023. Protein-association network evaluation and gene ontology enrichment study was utilized to evaluate the biological function of the discovered gene modules.

Results: We identified several associations for both neurodevelopmental and neurodegenerative disorders linked to REST, as well as its mapped gene modules and their functional relationship networks.

Conclusion: This work offers fresh insights into identifying risk loci of neurological disorders caused by REST.

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REST基因相关神经疾病/性状与相关单核苷酸多态性的全基因组关联研究。

背景：全基因组关联研究（GWAS）已被用于通过比较起源相似但性状不同的个体遗传变化的基因型频率来探索基因型和表型之间的联系。目的：目的是使用GWAS目录来识别和研究REST基因的基因型和表型之间的各种相关性。方法：在这项研究中，我们使用了GWAS的大型数据集，该数据集包括112项研究中的62218976人，以及截至2023年2月28日来自欧洲、亚洲、西班牙裔和非洲血统的122个性状（www.ebi.ac.uk/GWAS/genes/REST）的122个关联。利用蛋白质关联网络评估和基因本体富集研究来评估所发现的基因模块的生物学功能。结果：我们确定了与REST相关的神经发育和神经退行性疾病的几种关联，以及其映射的基因模块及其功能关系网络。结论：这项工作为识别REST引起的神经系统疾病的风险位点提供了新的见解。

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

Current neurovascular research 医学-临床神经学

CiteScore

3.80

自引率

9.50%

发文量

审稿时长

3 months

期刊介绍： Current Neurovascular Research provides a cross platform for the publication of scientifically rigorous research that addresses disease mechanisms of both neuronal and vascular origins in neuroscience. The journal serves as an international forum publishing novel and original work as well as timely neuroscience research articles, full-length/mini reviews in the disciplines of cell developmental disorders, plasticity, and degeneration that bridges the gap between basic science research and clinical discovery. Current Neurovascular Research emphasizes the elucidation of disease mechanisms, both cellular and molecular, which can impact the development of unique therapeutic strategies for neuronal and vascular disorders.