ArticleCell2024
A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.
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Article in Cell, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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42citing papers in PubMed
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Who cites it
42 citing papers in PubMed.
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- Eyes of Africa: The Genetics of Blindness. Baseline characteristics, ocular features, and associations with glaucoma in continental Africans.Eye (London, England) · 2026Article
- A Whole-Genome Sequence Genome-Wide Association Study inOphthalmology science · 2026Article
- A Human Pharmacogenomics Approach Provides Insight Into the Pathogenesis and Pathophysiology of Steroid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- Transcending genome-wide association studies to create useful multi-omic views of glaucoma.Progress in retinal and eye research · 2026Review
- Primary Open-Angle Glaucoma among Black and Latinx Populations: Exploring Racial Disparities in the United States.Journal of racial and ethnic health disparities · 2026Review
- Statin Use and Primary Open-Angle Glaucoma Severity in Patients of African Ancestry.Research square · 2026Article
- Integrative Multi-Omics Analysis Prioritizes Candidate Therapeutic Targets for Primary Open-Angle Glaucoma.International journal of molecular sciences · 2026Article
- Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026Article
- Multi-ancestry genome-wide association study in all of Us for primary open-angle glaucoma.Scientific reports · 2026Article
- Development of deep learning model to screen for primary open-angle glaucoma in African ancestry individuals.NPJ digital medicine · 2026Article
- Article
- Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension.medRxiv : the preprint server for health sciences · 2026Article
- Investigating therapeutic response to netarsudil in glaucoma subjects with theFrontiers in pharmacology · 2026Article
- Absence of Association Between Glaucoma and Stroke Risk: Insights From a Cross-Sectional Study and a Two-Sample Mendelian Randomization Study.Journal of ophthalmology · 2026Article
- Experimental models to study oxidative stress in glaucoma: integratingFrontiers in pharmacology · 2026Review
- Investigating the Shared Genetic Architecture of 3 Age-Related Ocular Disorders.Ophthalmology science · 2026Article
- Optimizing Filtration Surgery Procedures in African-Derived Populations: Trabeculectomy and Preserflo.Clinical ophthalmology (Auckland, N.Z.) · 2026Article
- Predictors of Glaucoma Conversion in an African Ancestry Cohort: A Longitudinal Study.American journal of ophthalmology · 2025Article
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Authors and funding
60 authors.
Shefali S VermaDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Harini V GudisevaScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Venkata R M ChavaliScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Rebecca J SaloweScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Yuki BradfordDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Lindsay GuareDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Anastasia LucasDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
David W CollinsScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Vrathasha VrathashaScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Rohini M NairScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sonika RathiScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Bingxin ZhaoDepartment of Statistics and Data Science, The Wharton School, University of Pennsylvania, Philadelphia, PA, USA.
Jie HeScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Roy LeeScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Selam Zenebe-GeteScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Anita S BowmanScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Caitlin P McHughNew York Genome Center, New York, NY, USA.
Michael C ZodyNew York Genome Center, New York, NY, USA.
Maxwell PistilliScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Naira KhachatryanScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ebenezer DanielScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Windell MurphyWindell Murphy, MD, Philadelphia, PA, USA.
Jeffrey HendererDepartment of Ophthalmology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.
Regeneron Genetics CenterTarrytown, NY, USA.
Tyler G KinzyDepartment of Population and Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA; Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA.
Sudha K IyengarDepartment of Population and Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA; Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA.
Neal S PeacheyLouis Stokes Cleveland VA Medical Center, Cleveland, OH, USA; Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA.
VA Million Veteran Program
Kent D TaylorDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Xiuqing GuoDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Yii-Der Ida ChenDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Linda ZangwillViterbi Family Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, La Jolla, CA, USA.
Christopher GirkinDepartment of Ophthalmology and Visual Sciences, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Radha AyyagariViterbi Family Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, La Jolla, CA, USA.
Jeffrey LiebmannDepartment of Ophthalmology, Columbia University Medical Center, Columbia University, New York, NY, USA.
Chimd M Chuka-OkosaDepartment of Ophthalmology, University of Nigeria, Ituku, Nigeria.
Susan E WilliamsDivision of Ophthalmology, Department of Neurosciences, University of the Witwatersrand, Johannesburg, South Africa.
Stephen AkafoUnit of Ophthalmology, Department of Surgery, University of Ghana Medical School, Accra, Ghana.
Donald L BudenzDepartment of Ophthalmology, University of North Carolina, Chapel Hill, NC, USA.
Olusola O OlawoyeDepartment of Ophthalmology, University of Ibadan, Ibadan, Nigeria.
Michele RamsaySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Adeyinka AshayeDepartment of Ophthalmology, University of Ibadan, Ibadan, Nigeria.
Onoja M AkpaDepartment of Epidemiology and Medical Statistics, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Tin AungSingapore Eye Research Institute, Singapore, Singapore.
Janey L WiggsDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Ahmara G RossScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Qi N CuiScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Victoria AddisScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Amanda LehmanScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Eydie Miller-EllisScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Prithvi S SankarScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Scott M WilliamsDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Gui-Shuang YingScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jessica Cooke BaileyDepartment of Population and Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA; Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA; Department of Pharmacology and Toxicology, Center for Health Disparities, Brody School of Medicine. East Carolina University, Greenville, NC, 27834, USA.
Jerome I RotterDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Robert WeinrebViterbi Family Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, La Jolla, CA, USA.
Chiea Chuen KhorGenome Institute of Singapore, Singapore, Singapore.
Michael A HauserDepartment of Medicine, Duke University, Durham, NC, USA.
Marylyn D RitchieDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Joan M O'BrienScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: joan.o'brien@pennmedicine.upenn.edu.
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MPhenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4MScientific TransparencyP30EY001583 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Qi N Cui · 1985 to 2026
$19.5MPrimary Open Angle African-American Glaucoma Genetics Study RenewalR01EY023557 · NEI · UNIVERSITY OF PENNSYLVANIA · PI O'BRIEN, JOAN M · 2014 to 2025
$18.1MTISSUE CULTURE AND HYBRIDOMA MODULEP30EY011373 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI Irina A Pikuleva · 1997 to 2026
$17.7MVision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Derek Stuart Welsbie · 2012 to 2026
$10.3MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MDiagnostic Innovations in Glaucoma:Structural AssessmentR01EY011008 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ZANGWILL, LINDA M · 1995 to 2015
$8.7MRESOURCE/SERVICE CORE C - MOLECULAR INFORMATICS MODULEP30EY025585 · NEI · CLEVELAND CLINIC LERNER COM-CWRU · PI Brian D Perkins · 2016 to 2026
$7.7MxADAGES III: Contribution of genotype to glaucoma phenotype in African AmericansR01EY023704 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ROTTER, JEROME I, WEINREB, ROBERT N · 2013 to 2017
$6.3MProject 3_The GambiaU54HG009826 · NHGRI · COLLEGE OF MEDICINE, UNIVERSITY OF IBADAN · PI HYDARA, ABBA · 2017 to 2021
$3.8MBLRD VA I01 BX004557BLRD VA IK6 BX005233NCATS NIH HHS UL1 TR001878NCATS NIH HHS UL1 TR001881NEI NIH HHS P30 EY001583NEI NIH HHS P30 EY011373NEI NIH HHS P30 EY022589NEI NIH HHS P30 EY025585NEI NIH HHS R01 EY011008NEI NIH HHS R01 EY019869NEI NIH HHS R01 EY021818NEI NIH HHS R01 EY023557NEI NIH HHS R01 EY023704NEI NIH HHS R01 EY033829NEI NIH HHS R01 EY034115NEI NIH HHS T32 EY026590NHGRI NIH HHS U54 HG009826NHLBI NIH HHS R01 HL105756NIDDK NIH HHS P30 DK063491
Abstract
Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness worldwide, disproportionately affects individuals of African ancestry. We conducted a genome-wide association study (GWAS) for POAG in 11,275 individuals of African ancestry (6,003 cases; 5,272 controls). We detected 46 risk loci associated with POAG at genome-wide significance. Replication and post-GWAS analyses, including functionally informed fine-mapping, multiple trait co-localization, and in silico validation, implicated two previously undescribed variants (rs1666698 mapping to DBF4P2; rs34957764 mapping to ROCK1P1) and one previously associated variant (rs11824032 mapping to ARHGEF12) as likely causal. For individuals of African ancestry, a polygenic risk score (PRS) for POAG from our mega-analysis (African ancestry individuals) outperformed a PRS from summary statistics of a much larger GWAS derived from European ancestry individuals. This study quantifies the genetic architecture similarities and differences between African and non-African ancestry populations for this blinding disease.
Indexed as
Genome-Wide Association StudyGlaucoma, Open-AngleBlack PeopleGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideAfrican ancestryBlackgenetic risk factorsgenome-wide association studyglaucomahealth disparitiesneurodegenerationophthalmologyoptic nerveprimary open-angle glaucoma
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