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Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms.

Human molecular genetics - 2 Nov 2025

Marzban Maryam, Diaz-Torres Santiago, Thorp Jackson, Ong Jue Sheng, Khawaja Anthony P, Hammond Christopher J, Hysi Pirro G, Pasquale Louis R, Kraft Peter, Kang Jae H, Hewitt Alex W, Mackey David A, Craig Jamie E, Wiggs Janey L, MacGregor Stuart, Gharahkhani Puya

Abstract excerpt

To explore the genetic underpinnings of glaucoma endophenotypes influenced by mechanisms other than intraocular pressure (IOP), this study employs genomic structural equation modelling (GenomicSEM) and utilises summary statistics from Genome-Wide Association Studies (GWAS) to examine endophenotypes associated with non-IOP mechanisms. We investigated the genetic relationships among primary open-angle glaucoma...

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Identifiers

PMID: 41060825
DOI: 10.1093/hmg/ddae191
PMCID: PMC12581822

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