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

IF 11.1 Q1 CELL BIOLOGY Cell genomics Pub Date : 2024-06-12 DOI:10.1016/j.xgen.2024.100582
Joel Gelernter, Daniel F Levey, Marco Galimberti, Kelly Harrington, Hang Zhou, Keyrun Adhikari, Priya Gupta, J Michael Gaziano, Dean Eliott, Murray B Stein
{"title":"Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations.","authors":"Joel Gelernter, Daniel F Levey, Marco Galimberti, Kelly Harrington, Hang Zhou, Keyrun Adhikari, Priya Gupta, J Michael Gaziano, Dean Eliott, Murray B Stein","doi":"10.1016/j.xgen.2024.100582","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":"4 6","pages":"100582"},"PeriodicalIF":11.1000,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11228954/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cell genomics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.xgen.2024.100582","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
引用次数: 0

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.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
常见视网膜疾病视网膜外膜的全基因组关联研究:三个美国人群中的重要风险位点。
视网膜外膜(ERM)是一种常见的视网膜病变,其特征是视网膜表面存在纤维细胞组织,通常伴有视物变形和视力下降。我们对 "百万退伍军人计划"(MVP)中的欧洲裔美国人(EUR)、非洲裔美国人(AFR)和拉丁裔美国人(AMR)ERM 参与者进行了全基因组关联分析--共有 38,232 例病例和 557,988 例对照。我们在每个人群中分别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人群中都观察到了全基因组显性(GWS)关联:在欧洲受试者中有 31 个风险位点,在非洲裔受试者中有 3 个,在亚洲裔受试者中有 2 个,在跨种群荟萃分析中有 48 个。许多结果在芬兰基因样本中得到了重复。一些 GWS 变异与黄斑中基因表达的改变有关。ERM与多种性状有明显的遗传相关性。途径富集分析涉及胶原蛋白和胶原蛋白相关机制等。这项强大的 ERM GWAS 发现了新的遗传关联,指出了 ERM 的生物学机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
CiteScore
7.10
自引率
0.00%
发文量
0
期刊最新文献
A combined deep learning framework for mammalian m6A site prediction. Analysis of single-cell CRISPR perturbations indicates that enhancers predominantly act multiplicatively. Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors. Gene regulatory network inference from CRISPR perturbations in primary CD4+ T cells elucidates the genomic basis of immune disease. Leveraging genomes to support conservation and bioeconomy policies in a megadiverse country.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1