SynthesisCell reports. Medicine2024
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Cell reports. Medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
11.9field-weighted citation impact, top 1% of its field
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.
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.
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Who cites it
28 citing papers in PubMed, 26 citations in OpenAlex.
- Genetic discovery using deep learning-derived optic nerve integrity phenotypes.medRxiv : the preprint server for health sciences · 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
- Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.Nature communications · 2026Article
- Integrative statistical genetics prioritizes candidate ASCVD susceptibility genes across tissues.Molecular medicine (Cambridge, Mass.) · 2026Article
- Genetic risk score to enhance glaucoma case detection: a prospective double-blind screening study (EyeLife) in the population-based Lifelines cohort.European journal of epidemiology · 2026Article
- A Primary Open-Angle Glaucoma Locus Near Transcription FactorOphthalmology science · 2026Article
- Associations Between Serum Uric Acid Levels and Glaucoma: Results From the LifeLines Cohort and UK Biobank.Investigative ophthalmology & visual science · 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
- Comparison of variant callers using 60 532 multi-ancestry whole genome sequences.Briefings in bioinformatics · 2026Article
- Genetic insights and mechanistic parallels in gestational diabetes mellitus and type 2 diabetes.Nature communications · 2026Article
- Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women.Research square · 2025Article
- Association Between Chronic Kidney Disease and Glaucoma: Results From the Lifelines Cohort Study and UK Biobank.Investigative ophthalmology & visual science · 2025Article
- Integrative genetic analysis reveals new relationships between intraocular pressure, glaucoma, and ischemic stroke risk: a study based on combined SNP-to-gene, Mendelian randomization and pathway investigations.Briefings in bioinformatics · 2025Article
- TMCO1 as an Endoplasmic Reticulum Calcium Load-Activated Channel: Mechanisms and Disease Implications.Biomolecules · 2025Review
- Gene and phenome-based analysis of the shared genetic architecture of eye diseases.American journal of human genetics · 2025Article
- Genetic context modulates aging and degeneration in the murine retina.Molecular neurodegeneration · 2025Article
- Structural framework to address variant-gene relationship in primary open-angle glaucoma.Vision research · 2025Review
- Progressive Optic Neuropathy in Hydrocephalic Ccdc13 Mutant Mice Caused by Impaired Axoplasmic Transport at the Optic Nerve Head.Investigative ophthalmology & visual science · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
37 authors at 16 institutions in 8 countries.
Valeria Lo FaroDepartment of Ophthalmology, Amsterdam University Medical Center (AMC), Amsterdam, the Netherlands; Department of Clinical Genetics, Amsterdam University Medical Center (AMC), Amsterdam, the Netherlands; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Arjun BhattacharyaDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Institute for Quantitative and Computational Biosciences, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Wei ZhouAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Dan ZhouDepartment of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Ying WangAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Kristi LällEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Masahiro KanaiAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Esteban Lopera-MayaUniversity of Groningen, UMCG, Department of Genetics, Groningen, the Netherlands.
Peter StraubDepartment of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Priyanka PawarVanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Ran TaoVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
Xue ZhongDepartment of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Shinichi NambaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan.
Global Biobank Meta-analysis Initiative
Serena SannaUniversity of Groningen, UMCG, Department of Genetics, Groningen, the Netherlands; Institute for Genetics and Biomedical Research (IRGB), National Research Council (CNR), Cagliari, Italy.
Ilja M NolteDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka, Japan; Center for Infectious Disease Education and Research (CiDER), Osaka University, Osaka, Japan.
Nathan IngoldStatistical Genetics, QIMR Berghofer Medical Research Institute, Queensland University of Technology, Brisbane, QLD, Australia; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, Queensland University of Technology, Brisbane, QLD, Australia.
Harold SniederDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Ida SurakkaDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Jonathan ShorttColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Chris GignouxColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Nicholas RafaelsColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Kristy CrooksColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Anurag VermaDepartment of Medicine, Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, PA, USA; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA, USA.
Shefali S VermaDepartment of Pathology, University of Pennsylvania, Philadelphia, PA, USA.
Lindsay GuareDepartment of Pathology, University of Pennsylvania, Philadelphia, PA, USA; Institute for Biomedical Informatics, University of Pennsylvania, Philadelphia, PA, USA.
Daniel J RaderDepartment of Medicine, Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, PA, USA; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
Cristen WillerK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Alicia R MartinAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Milam A BrantleyVanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Eric R GamazonDepartment of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Nomdo M JansoniusDepartment of Ophthalmology, Amsterdam University Medical Center (AMC), Amsterdam, the Netherlands.
Karen JoosVanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Nancy J CoxDepartment of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Jibril HirboDepartment of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: jibril.hirbo@vumc.org.
Vanderbilt University Medical Center · USBroad Institute · USUniversity of Colorado Anschutz Medical Campus · USUniversity Medical Center Groningen · NLQueensland University of Technology · AUTranslational Therapeutics (United States) · USUniversity of Groningen · NLNorwegian University of Science and Technology · NORIKEN Center for Integrative Medical Sciences · JPThe University of Osaka · JPUniversity City Science Center · USUniversity of California, Los Angeles · USUniversity of Michigan · USUniversity of Pennsylvania · USUniversity of Tartu · EEUppsala University · SE
Funding
Southeast Collaborative for Innovative Solutions to Chronic DiseasesP50MD017347 · NIMHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COX, NANCY J, MILLER-HUGHES, STEPHANIA T. · 2021 to 2025
$15.5MPolygenic risk scores for cardiometabolic disorders: the role of blood cells immune response and evolutionary adaptationU01HG011720 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Yun Li, ALEXANDER P REINER · 2021 to 2026
$5.4MHaplotype-aware models of gene and isoform expression with application to genetic studies of disease in diverse populationsR01GM140287 · NIGMS · SEATTLE CHILDREN'S HOSPITAL · PI GAMAZON, ERIC R, MOHAMMADI, PEJMAN · 2021 to 2024
$2.8MFunctional Genomics: A Phenome-wide SurveyR35HG010718 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2019 to 2023
$2.2MAdvancing Multi-Omics and Electronic Health Records Computational MethodologiesR01HG011138 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2020 to 2024
$1.6MAdvancing drug repositioning and development for Alzheimer's Disease using functional genomics and computational phenomicsR56AG068026 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2021 to 2022
$1.5MNHGRI NIH HHS R01 HG011138NHGRI NIH HHS R35 HG010718NHGRI NIH HHS U01 HG011720NIA NIH HHS R56 AG068026NIGMS NIH HHS R01 GM140287NIMHD NIH HHS P50 MD017347
Abstract
Primary open-angle glaucoma (POAG), a leading cause of irreversible blindness globally, shows disparity in prevalence and manifestations across ancestries. We perform meta-analysis across 15 biobanks (of the Global Biobank Meta-analysis Initiative) (n = 1,487,441: cases = 26,848) and merge with previous multi-ancestry studies, with the combined dataset representing the largest and most diverse POAG study to date (n = 1,478,037: cases = 46,325) and identify 17 novel significant loci, 5 of which were ancestry specific. Gene-enrichment and transcriptome-wide association analyses implicate vascular and cancer genes, a fifth of which are primary ciliary related. We perform an extensive statistical analysis of SIX6 and CDKN2B-AS1 loci in human GTEx data and across large electronic health records showing interaction between SIX6 gene and causal variants in the chr9p21.3 locus, with expression effect on CDKN2A/B. Our results suggest that some POAG risk variants may be ancestry specific, sex specific, or both, and support the contribution of genes involved in programmed cell death in POAG pathogenesis.
Indexed as
Genetic Predisposition to DiseaseGlaucoma, Open-AngleBiologyCell ProliferationFemaleHumansMalePolymorphism, Single Nucleotidecross-ancestrydisease disparitydisease predictiongenetic interactionsgeneticsglaucomaGWASpleiotropyPRStranscriptomic
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