Evidence map›Paper›PMID 42256007›Full record

ArticleOphthalmology science2026

A Primary Open-Angle Glaucoma Locus Near Transcription Factor

Tyler G Kinzy, Osahon J Asowata, Lauren A Cruz, Andrea R Waksmunski, Jingwen Cai, Puja Mehta, Sabrina L Mitchell, Levi Svaren, Inas F Aboobakar, Ayobami A Alimi and 24 more

Abstract read
In one paragraph

Article in Ophthalmology science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

34 authors.

Tyler G KinzyDepartment of Pharmacology & Toxicology, Brody School of Medicine, East Carolina University, Greenville, North Carolina.
Osahon J AsowataDepartment of Pharmacology & Toxicology, Brody School of Medicine, East Carolina University, Greenville, North Carolina.
Lauren A CruzDepartment of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.
Andrea R WaksmunskiDepartment of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.
Jingwen CaiDepartment of Cellular Biology and Anatomy, Medical College of Georgia, Augusta, Georgia.
Puja MehtaDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts.
Sabrina L MitchellDepartment of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee.
Levi SvarenDepartment of Structural and Computational Biology and Quantitative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin.
Inas F AboobakarDepartment of Ophthalmology, Harvard Medical School, Boston, Massachusetts.
Ayobami A AlimiDepartment of Pharmacology & Toxicology, Brody School of Medicine, East Carolina University, Greenville, North Carolina.
Daniel JennessBrody School of Medicine, East Carolina University, Greenville, North Carolina.
Anais BauerBrody School of Medicine, East Carolina University, Greenville, North Carolina.
Cari L NealonOphthalmology Service, Eye Clinic, Louis Stokes VA Medical Center, Cleveland, Ohio.
Christopher W HalladayCenter for Innovation in Long Term Services and Supports, Providence VA Medical Center, Providence, Rhode Island.
Briana L McIntoshDepartment of Pharmacology & Toxicology, Brody School of Medicine, East Carolina University, Greenville, North Carolina.
Wen-Chih WuSection of Cardiology, Medical Service, Providence VA Medical Center, Providence, Rhode Island.
Louis R PasqualeDepartment of Ophthalmology, Eye and Vision Research Institute of New York Eye and Ear at Mount Sinai, Mount Sinai Hospital, New York, New York.
Michael A HauserDepartment of Molecular Genetics and Microbiology, Duke University Medical Center, Duke Molecular Physiology Institute, Durham, North Carolina.
Scott M WilliamsDepartment of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.
Pirro HysiDepartment of Ophthalmology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Janey L WiggsDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts.
Dana C CrawfordDepartment of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.
W Daniel StamerDepartment of Ophthalmology, Duke University School of Medicine, Durham, North Carolina.
Neal S PeacheyResearch Service, Louis Stokes Cleveland VA Medical Center, Cleveland, Ohio.
Sudha K IyengarDepartment of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.
Karen MrukDepartment of Pharmacology & Toxicology, Brody School of Medicine, East Carolina University, Greenville, North Carolina.
Yutao LiuDepartment of Cellular Biology and Anatomy, Medical College of Georgia, Augusta, Georgia.
Ayellet V SegrèDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts.
Jessica N Cooke BaileyDepartment of Pharmacology & Toxicology, Brody School of Medicine, East Carolina University, Greenville, North Carolina.
Million Veteran Program, MVP Program Office
MVP Steering Committee
MVP Co-Principal Investigators
MVP Core Operations

Funding

TISSUE CULTURE AND HYBRIDOMA MODULEP30EY011373 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI Irina A Pikuleva · 1997 to 2026
$17.7M
Uncovering novel biological processes and pathogenic mechanisms for glaucomaR01EY031424 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Ayellet Vered Segre · 2020 to 2026
$4.5M
BLRD VA I01 BX004557BLRD VA IK6 BX005233NEI NIH HHS P30 EY011373NEI NIH HHS R01 EY031424
6 · The paper itself

Abstract

Objective: To identify genetic risk variants for primary open-angle glaucoma (POAG) and prioritize biologically relevant genes through integration of genetic association, regulatory annotation, ocular transcriptomics, and functional modeling. Design: A case-control genome-wide association study (GWAS) with integrative functional follow-up. Participants: A total of 234 153 United States Veterans of European ancestry enrolled in the Million Veteran Program, including 10 738 POAG cases and 223 415 controls. Methods: We conducted a POAG GWAS using electronic health record-based phenotyping and logistic regression adjusted for age, sex, and genetic ancestry. Genome-wide significant loci were evaluated using statistical fine-mapping and colocalization with expression and splicing quantitative trait loci across ocular and nonocular tissues. Bulk and single-cell transcriptomic datasets were interrogated to assess gene expression in glaucoma-relevant tissues and cell types. Functional relevance was evaluated by examining gene expression responses to cyclic mechanical stretch (CMS) with and without transforming growth factor beta 2 (TGFβ2) in primary human trabecular meshwork (HTM) cells. Ortholog expression was assessed in zebrafish. Main Outcome Measures: Genome-wide significant variant associations with POAG, colocalized regulatory signals, ocular tissue and cell-type expression patterns, and differential gene expression under biomechanical and profibrotic stress conditions. Results: Genome-wide association study identified a significant association near Conclusions: Integration of GWAS, regulatory annotation, ocular transcriptomics, and functional modeling prioritizes Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Indexed as

eQTL/sQTL colocalizationGenome-wide association studyPrimary open-angle glaucomaPRRX1

Identifiers

PMID42256007
PMCPMC13240803

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.