{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:07:55Z","timestamp":1787616475637,"version":"build-2736575974"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:00:00Z","timestamp":1759881600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Australian National Health and Medical Research Council","award":["1150144"],"award-info":[{"award-number":["1150144"]}]},{"DOI":"10.13039\/100006312","name":"BrightFocus Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006312","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002924","name":"The Glaucoma Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01 EY032559"],"award-info":[{"award-number":["R01 EY032559"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY036460"],"award-info":[{"award-number":["EY036460"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01EY022305"],"award-info":[{"award-number":["R01EY022305"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01 EY032559"],"award-info":[{"award-number":["R01 EY032559"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["P30 EY014104"],"award-info":[{"award-number":["P30 EY014104"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01 EY036460"],"award-info":[{"award-number":["R01 EY036460"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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 (POAG) and key endophenotypes: IOP, normal tension glaucoma (NTG), vertical cup disc ratio (VCDR), total macular thickness, ganglion cell\u2013inner plexiform layer (GCIPL), and retinal nerve fiber layer (RNFL), through exploratory factorial analysis (EFA) and confirmatory factorial analyses (CFA). GWAS-by-subtraction approach was employed to explore the genetic architecture of non-IOP components. Post-GWAS analyses implemented in Functional Mapping and Annotation (FUMA) and Multi-marker Analysis of Genomic Annotation (MAGMA) were conducted to identify non-IOP genes and pathways. The EFA revealed that 60% of the cumulative variance was explained by two latent factors (F1, F2). F1 included VCDR, POAG, NTG, and IOP, while F2 comprised RNFL, GCIPL, macular thickness, and VCDR. Significant associations between F2 and macular thickness and RNFL persisted after subtracting IOP. MAGMA analysis identified IOP-independent pathways for macular thickness and VCDR, primarily involving nerve and vascular pathways. Despite lower IOP levels in NTG patients, GWAS-by-subtraction revealed both significant IOP and non-IOP components for NTG. This research highlights the significance of non-IOP mechanisms in the development of glaucoma. Targeting these mechanisms could pave the way for developing novel treatments that extend beyond conventional IOP-based therapies. Further research is needed to explore non-IOP pathways in NTG and validate these findings across diverse populations.<\/jats:p>","DOI":"10.1093\/hmg\/ddae191","type":"journal-article","created":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T23:33:57Z","timestamp":1733787237000},"page":"1902-1911","source":"Crossref","is-referenced-by-count":2,"title":["Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6703-2224","authenticated-orcid":false,"given":"Maryam","family":"Marzban","sequence":"first","affiliation":[{"name":"QIMR Berghofer Medical Research Institute , 300 Herston Rd, Herston, Brisbane 4006, QLD ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santiago","family":"Diaz-Torres","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute , 300 Herston Rd, Herston, Brisbane 4006, QLD ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jackson","family":"Thorp","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute , 300 Herston Rd, Herston, Brisbane 4006, QLD ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6062-710X","authenticated-orcid":false,"given":"Jue Sheng","family":"Ong","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute , 300 Herston Rd, Herston, Brisbane 4006, QLD ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony P","family":"Khawaja","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre , Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London,","place":["United Kingdom"]},{"name":"Department of Public Health and Primary Care , Institute of Public Health, University of Cambridge School of Clinical Medicine, Cambridge,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J","family":"Hammond","sequence":"additional","affiliation":[{"name":"Twin Research and Genetic Epidemiology, King\u2019s College London , Westminster Bridge Rd, London SE1 7EH, London,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5752-2510","authenticated-orcid":false,"given":"Pirro G","family":"Hysi","sequence":"additional","affiliation":[{"name":"Twin Research and Genetic Epidemiology, King\u2019s College London , Westminster Bridge Rd, London SE1 7EH, London,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis R","family":"Pasquale","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Icahn School of Medicine at Mount Sinai , Gustave L. Levy Plaza, New York, NY 10029 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-8103","authenticated-orcid":false,"given":"Peter","family":"Kraft","sequence":"additional","affiliation":[{"name":"Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health , 677 Huntington AvenueKresge, 9th Floor, Boston, MA, 02115,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae H","family":"Kang","sequence":"additional","affiliation":[{"name":"Channing Division of Network Medicine, Brigham and Women\u2019s Hospital, Harvard Medical School , 181 Longwood Avenue, Boston, MA 02115,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5123-5999","authenticated-orcid":false,"given":"Alex W","family":"Hewitt","sequence":"additional","affiliation":[{"name":"Menzies Institute for Medical Research, University of Tasmania , 17 Liverpool St, Hobart, TAS 7000,","place":["Australia"]},{"name":"Centre for Eye Research Australia, University of Melbourne , Royal Victorian Eye and Ear Hospital, 32 Gisborne St, East Melbourne 3002, VIC ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Mackey","sequence":"additional","affiliation":[{"name":"Menzies Institute for Medical Research, University of Tasmania , 17 Liverpool St, Hobart, TAS 7000,","place":["Australia"]},{"name":"Centre for Eye Research Australia, University of Melbourne , Royal Victorian Eye and Ear Hospital, 32 Gisborne St, East Melbourne 3002, VIC ,","place":["Australia"]},{"name":"Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute , 2 Verdun St, Nedlands, WA 6009,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie E","family":"Craig","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Flinders University, Flinders Medical Centre , 1 Flinders Dr, Bedford Park, SA 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