Evidence map›Paper›PMID 41282865›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Endophenotype Guided Genome-Wide Association Study to Enhance Genetic Risk Prediction of Primary Open-Angle Glaucoma in African Ancestry Populations.

Aude Benigne Ikuzwe Sindikubwabo, Lannawill Caruth, Yan Zhu, Yuki Bradford, Rebecca Salowe, Marylyn D Ritchie, Marijana Vujković, Joan O'Brien, Shefali Setia-Verma

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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

9 authors.

Aude Benigne Ikuzwe SindikubwaboDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104.
Lannawill CaruthDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104.
Yan ZhuCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104.
Yuki BradfordDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104.
Rebecca SaloweCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104.
Marylyn D RitchieDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104.
Marijana VujkovićDepartment of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
Joan O'BrienCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104.
Shefali Setia-VermaDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104.

Funding

Scientific TransparencyP30EY001583 · NEI · UNIVERSITY OF PENNSYLVANIA · PI CLAIRE H MITCHELL · 1985 to 2026
$19.5M
Primary Open Angle African-American Glaucoma Genetics Study RenewalR01EY023557 · NEI · UNIVERSITY OF PENNSYLVANIA · PI O'BRIEN, JOAN M · 2014 to 2025
$18.1M
Integrative risk modeling for early prediction of endometriosis and its long-term health outcomes R01HD110567 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI SHEFALI Setia VERMA · 2023 to 2026
$2.7M
A genomics-based strategy to precision phenotyping and drug repositioning in cardiometabolic diseasesR01DK134575 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI Marijana Vujkovic · 2023 to 2026
$1.4M
NEI NIH HHS P30 EY001583NEI NIH HHS R01 EY023557NICHD NIH HHS R01 HD110567NIDDK NIH HHS R01 DK134575
6 · The paper itself

Abstract

Primary open angle glaucoma (POAG) is the leading cause of irreversible blindness, with genetic predisposition playing a major role. While most genetic studies have focused on variants directly associated with POAG, loci influencing POAG diagnosis and progression, through intermediate traits also known as endophenotypes, remain underexplored. These endophenotypes, including intraocular pressure (IOP), cup to disc ratio (CDR), and central corneal thickness (CCT), and more represent promising and potentially modifiable targets for intervention. Using the Primary Open Angle African American Glaucoma Genetics (POAAGG) cohort, which consist of we first conducted GWAS on POAG related endophenotypes. We then incorporated findings from a prior GWAS focused solely on POAG followed by mediation based GWAS adjusting POAG for key endophenotypes. This allowed us to quantify direct and indirect SNP effects on POAG risk. We then constructed mediator informed polygenic risk scores (PRS) combining both effects and evaluated predictive accuracy in 196 holdout samples (97 cases and 99 controls). Mediation based GWAS identified genome wide significant variants in

Indexed as

endophenotypesGenome-wide association analysesglaucoma-associated traitsmediation analysesmediator effect PRSPrimary Open-Angle Glaucomarisk prediction

Identifiers

PMID41282865
PMCPMC12632656

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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.