Evidence map›Paper›PMID 40128813›Full record

ArticleHuman genomics2025

Genetic risk factors associated with ocular perfusion pressure in primary open-angle glaucoma.

Heejin Jin, Je Hyun Seo, Young Lee, Sungho Won

Abstract read
In one paragraph

Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Heejin JinInstitute of Health and Environment, Seoul National University, Seoul, South Korea.
Je Hyun SeoVeterans Medical Research Institute, Veterans Health Service Medical Centre, Seoul, South Korea. jazmin2@naver.com.ORCID 0000-0003-3127-7160
Young LeeVeterans Medical Research Institute, Veterans Health Service Medical Centre, Seoul, South Korea.
Sungho WonInstitute of Health and Environment, Seoul National University, Seoul, South Korea.

Funding

National Research Foundation of Korea 2022R1C1C1002929Veterans Health Service Medical Center Research Grant No. VHSMC22045
6 · The paper itself

Abstract

backgroundPrimary open-angle glaucoma (POAG) is the leading cause of irreversible vision loss. However, its genetic risk factors, such as the vascular hypothesis of POAG, remain unclear. Here, we aimed to explore the genetic associations between mean ocular perfusion pressure (MOPP) and POAG. We performed genome-wide analysis with gene-based analysis from the UK Biobank (N = 459,195), which includes genetic data and ocular phenotypes. Bidirectional two-sample Mendelian randomisation (MR), multivariable MR, and mediation analysis were conducted using summary statistics from a previous meta-analysis of genome-wide association studies (N = 216,257).

resultsCEP85L, GRIA4, GRIN2A, LRFN5, MAGI1, POU6F2, RBFOX1, RBMS1, RBMS3, RBPMS, TRHDE, TUBB3, ZFHX3, and ZMAT4 were significantly correlated with various ocular phenotypes. Furthermore, POAG shared strong genetic associations with corneal resistance factor (CRF), intraocular pressure (IOP), refractive error (RE), and MOPP but none with corneal hysteresis (CH). Univariable MR showed a negative causal effect of CH, CRF, and MOPP and a positive causal effect of IOP on POAG occurrence. In multivariable MR, MOPP exhibited a direct causal effect on POAG, which was supported by the mediation analysis results.

conclusionsWe successfully determined 14 genetic loci related to CH, CRF, IOP, RE, and MOPP. In univariable and multivaribale MR analyses, a causal effect of MOPP on POAG were observed. In addition, the mediation analysis supported that MOPP exerted direct and indirect causal effects on POAG. This finding indicates that MOPP may serve as a potential causal factor in POAG, providing valuable insights into the pathophysiology of POAG as vascular theory.

Indexed as

Genetic Predisposition to DiseaseGlaucoma, Open-AngleIntraocular PressureAgedFemaleGenome-Wide Association StudyHumansMaleMendelian Randomization AnalysisMiddle AgedPolymorphism, Single NucleotideRisk FactorsGenome-wide association studyGlaucomaIntraocular pressureMean ocular perfusion pressureMediation analysisMendelian randomisationRefractive error

Identifiers

PMID40128813
PMCPMC11934579

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.