Evidence map›Paper›PMID 41256151›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Multimodal Prediction of Primary Open-Angle Glaucoma Using Polygenic Risk Scores and Clinical Features in a High-Risk African Ancestry Cohort.

Yan Zhu, Aude Benigne Ikuzwe Sindikubwabo, Yuki Bradford, Rebecca Salowe, Lannawill Caruth, Kenneth Pham, Moksha Laxmi, Vrathasha Vrathasha, Marine-Ayan Ibrahim Aibo, Roy Lee and 7 more

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

17 authors.

Yan ZhuCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Aude Benigne Ikuzwe SindikubwaboDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0009-0008-3770-2299
Yuki BradfordDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rebecca SaloweCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Lannawill CaruthDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Kenneth PhamCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-3352-9870
Moksha LaxmiCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Vrathasha VrathashaCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Marine-Ayan Ibrahim AiboCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Roy LeeCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Mina HalimitabriziCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Isabel Di RosaCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Leila GhaffariCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Jie HeCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Marylyn D RitchieDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Joan M O'BrienCenter for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Shefali Setia-VermaDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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
NEI NIH HHS P30 EY001583NEI NIH HHS R01 EY023557
6 · The paper itself

Abstract

Primary open-angle glaucoma (POAG) disproportionately affects individuals of African ancestry, yet early detection tools remain limited. Using the largest African ancestry POAG cohort (N = 7,352), we developed machine learning models that integrate clinical features with four ancestry-matched polygenic risk scores (PRS): two genome-wide (PRS-CS POAAGG, PRS-CS MEGA) and two curated (MTAG PRS, MEGA PRS). Models trained on a clean cohort (N = 196) and tested in 1,013 suspects showed improved prediction with PRS, especially curated scores. MEGA PRS-based predictions correlated with IOP, CDR, and RNFL, validating biological relevance. Combining PRS with inter-eye asymmetry features further enhanced performance. These results support curated PRS such as MEGA PRS and MTAG PRS as interpretable, equitable tools for early glaucoma risk stratification.

Indexed as

African American cohortgenetic risk scoremachine learningmultimodal modelingocular phenotypesphenotype integrationpolygenic risk scoreprecision medicineprimary open-angle glaucomarisk prediction

Identifiers

PMID41256151
PMCPMC12622094

What OpenQuestion holds

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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.