Evidence map›Paper›PMID 42620341›Full record

ArticleOphthalmology science2026

A Whole-Genome Sequence Genome-Wide Association Study in

Inas F Aboobakar, Lauren A Cruz, Tyler G Kinzy, Yuyang Luo, Sanjana Nallapaneni, Ron Do, Thi Ha Vy, Hetince Zhao, Jessica H Tran, Pirro G Hysi and 9 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

5 · Who and what money

Authors and funding

19 authors.

Inas F AboobakarDepartment of Ophthalmology, Harvard Medical School, Boston, Massachusetts.
Lauren A CruzDepartment of Population & Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Tyler G KinzyDepartment of Pharmacology & Toxicology, Brody School of Medicine, East Carolina University, Greenville, North Carolina.
Yuyang LuoDepartment of Ophthalmology, Harvard Medical School, Boston, Massachusetts.
Sanjana NallapaneniDepartment of Population & Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Ron DoDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York.
Thi Ha VyDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York.
Hetince ZhaoDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York.
Jessica H TranDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York.
Pirro G HysiNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Puya GharahkhaniQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Louis R PasqualeDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York.
Michael A HauserDepartments of Ophthalmology and Medicine, Duke University, Durham, North Carolina.
Ayellet V SegrèDepartment of Ophthalmology, Harvard Medical School, Boston, Massachusetts.
Dana C CrawfordDepartment of Population & Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Boston, Massachusetts.
Jessica N Cooke BaileyDepartment of Pharmacology & Toxicology, Brody School of Medicine, East Carolina University, Greenville, North Carolina.
International Glaucoma Genetics Consortium

Funding

Clinical and Translational Science Collaborative of ClevelandUL1TR002548 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI MCCOMSEY, GRACE A · 2018 to 2022
$35.5M
Clinical and Translational Science Collaborative of Northern Ohio, Catalyzing Linkages to Equity in Health (CLE Health)UM1TR004528 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI GRACE A MCCOMSEY · 2023 to 2026
$32.1M
Translational and Therapeutics CoreP30AG072959 · NIA · CLEVELAND CLINIC LERNER COM-CWRU · PI Mark Lloyd Cohen · 2021 to 2026
$23.9M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1M
Characterizing the Genetic Risk for Alzheimer Disease in African and Admixed African-American AncestriesU01AG084545 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI GOLDIE S. BYRD, ANTHONY JOHN GRISWOLD · 2024 to 2026
$14.9M
Protective Genetic Varients for Alzheimer Disease in the AmishR01AG058066 · NIA · CASE WESTERN RESERVE UNIVERSITY · PI Jonathan L Haines, Margaret A. Pericak-Vance · 2022 to 2026
$8.0M
The NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9M
BIOMETRIC-GENETIC ANALYSIS OF CARDIOVASCULAR DISEASET32HL007567 · NHLBI · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ZHU, XIAOFENG · 1985 to 2021
$6.0M
Postbaccalaureate Research Education ProgramR25GM075207 · NIGMS · CASE WESTERN RESERVE UNIVERSITY · PI CRAWFORD, DANA C · 2006 to 2024
$5.6M
VISUAL SCIENCES TRAINING PROGRAMT32EY007157 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI Johannes Friedrich von Lintig · 2000 to 2026
$5.5M
Uncovering novel biological processes and pathogenic mechanisms for glaucomaR01EY031424 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Ayellet Vered Segre · 2020 to 2026
$4.5M
Understanding the clinical impact of cumulative genetic risk to glaucomaR01EY032559 · NEI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Louis Robert Pasquale, Janey L Wiggs · 2021 to 2026
$4.3M
BLRD VA I01 BX004557BLRD VA IK6 BX005233NCATS NIH HHS UL1 TR002548NCATS NIH HHS UM1 TR004528NEI NIH HHS K23 EY035734NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY031424NEI NIH HHS R01 EY032559NEI NIH HHS R01 EY033829NEI NIH HHS R01 EY036460NEI NIH HHS T32 EY007157NHGRI NIH HHS R13 HG011436NHLBI NIH HHS T32 HL007567NIA NIH HHS P30 AG072959NIA NIH HHS R01 AG058066NIA NIH HHS U01 AG084545NIDDK NIH HHS U01 DK114908NIGMS NIH HHS R25 GM075207NIGMS NIH HHS R35 GM124836NLM NIH HHS R01 LM014520
6 · The paper itself

Abstract

Objective: To assess how whole genome sequencing (WGS) and varying phenotype definitions influence genetic discovery for primary open-angle glaucoma (POAG) in a diverse population. Design: Ancestry-stratified genome-wide association studies (GWASs) and cross-ancestry meta-analyses of POAG cases and controls using 2 phenotype definitions. Participants: Cases (age ≥40 years) and controls (age ≥65 years) were identified in the National Institutes of Health Methods: Genome-wide association studies were conducted within EUR, AFR, and AMR ancestry groups individually using firth logistic regression with age, sex, and the top 10 genotype principal components included as covariates. The ancestry-stratified GWASs were then meta-analyzed using a fixed-effects, inverse variance-weighted approach. Main Outcome Measures: Identification of genome-wide significant loci ( Results: Known POAG risk loci (e.g., Conclusions: This study demonstrates the value of WGS, diverse ancestry inclusion, and phenotypic refinement in uncovering novel POAG genetic risk loci. The findings underscore the need to prioritize both genetic diversity and refined case/control definitions to advance understanding of this complex ocular disease. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Indexed as

All of UsBiobankGeneticsGenomicsGlaucomaGWAS

Identifiers

PMID42620341
PMCPMC13485623

What Socratic holds

Textmetadata
Read underepoch 390

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 Socratic graph.