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。

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
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引用次数: 0

摘要

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

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.

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