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视网膜前膜这一常见视网膜疾病的全基因组关联研究：三个美国人群中各自的显著风险基因座。

Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations.

作者信息

Gelernter Joel, Levey Daniel F, Galimberti Marco, Harrington Kelly, Zhou Hang, Adhikari Keyrun, Gupta Priya, Gaziano J Michael, Eliott Dean, Stein Murray B

机构信息

Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA; Department of Psychiatry, VA Connecticut Healthcare Center, West Haven, CT, USA; Departments of Genetics and Neuroscience, Yale School of Medicine, New Haven, CT, USA.

Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA; Department of Psychiatry, VA Connecticut Healthcare Center, West Haven, CT, USA.

出版信息

Cell Genom. 2024 Jun 12;4(6):100582. doi: 10.1016/j.xgen.2024.100582.

DOI:10.1016/j.xgen.2024.100582
PMID:38870908
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11228954/
Abstract

Epiretinal membrane (ERM) is a common retinal condition characterized by the presence of fibrocellular tissue on the retinal surface, often with visual distortion and loss of visual acuity. We studied European American (EUR), African American (AFR), and Latino (admixed American, AMR) ERM participants in the Million Veteran Program (MVP) for genome-wide association analysis-a total of 38,232 case individuals and 557,988 control individuals. We completed a genome-wide association study (GWAS) in each population separately, and then results were meta-analyzed. Genome-wide significant (GWS) associations were observed in all three populations studied: 31 risk loci in EUR subjects, 3 in AFR, and 2 in AMR, with 48 in trans-ancestry meta-analysis. Many results replicated in the FinnGen sample. Several GWS variants associate to alterations in gene expression in the macula. ERM showed significant genetic correlation to multiple traits. Pathway enrichment analyses implicated collagen and collagen-adjacent mechanisms, among others. This well-powered ERM GWAS identified novel genetic associations that point to biological mechanisms for ERM.

摘要

视网膜前膜（ERM）是一种常见的视网膜疾病，其特征是视网膜表面存在纤维细胞组织，常伴有视觉扭曲和视力下降。我们在百万退伍军人计划（MVP）中研究了欧美裔（EUR）、非裔美国人（AFR）和拉丁裔（混血美国人，AMR）的ERM参与者，进行全基因组关联分析，共有38232例病例个体和557988例对照个体。我们分别在每个群体中完成了全基因组关联研究（GWAS），然后对结果进行了荟萃分析。在所研究的所有三个群体中均观察到全基因组显著（GWS）关联：EUR受试者中有31个风险位点，AFR中有3个，AMR中有2个，跨祖先荟萃分析中有48个。许多结果在芬兰基因样本中得到了重复。几个GWS变异与黄斑区基因表达的改变有关。ERM与多个性状显示出显著的遗传相关性。通路富集分析涉及胶原蛋白和与胶原蛋白相邻的机制等。这项样本量充足的ERM GWAS确定了新的遗传关联，这些关联指向了ERM的生物学机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/68cf95a8eaff/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/823fa39dd144/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/7df161d84fa2/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/f266227fc7bc/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/68cf95a8eaff/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/823fa39dd144/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/7df161d84fa2/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/f266227fc7bc/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63bc/11228954/68cf95a8eaff/gr3.jpg

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本文引用的文献

[1]
Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals.

Nat Med. 2023-12

[2]
African ancestry GWAS of dementia in a large military cohort identifies significant risk loci.

Mol Psychiatry. 2023-3

[3]
Untangling the Extracellular Matrix of Idiopathic Epiretinal Membrane: A Path Winding among Structure, Interactomics and Translational Medicine.

Cells. 2022-8-15

[4]
Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.

EBioMedicine. 2022-8

[5]
Proteomics and phosphoproteomics analysis of vitreous in idiopathic epiretinal membrane patients.

Proteomics Clin Appl. 2022-9

[6]
Visual impairment and depression in China: a 7-year follow-up study from national longitudinal surveys.

BMJ Open. 2022-4-27

[7]
Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects.

Ir J Med Sci. 2022-10

[8]
Identifying causal variants by fine mapping across multiple studies.

PLoS Genet. 2021-9

[9]
Application of Collagen I and IV in Bioengineering Transparent Ocular Tissues.

Front Surg. 2021-8-26

[10]
Surgical Treatment of Epiretinal Membrane.

Acta Med Okayama. 2021-8

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