Evidence map›Paper›PMID 39551815›Full record

SynthesisNature communications2024

Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma.

Santiago Diaz-Torres, Weixiong He, Regina Yu, IGGC International Glaucoma Genetics Consortium, Anthony P Khawaja, Christopher J Hammond, Pirro G Hysi, Louis R Pasquale, Yeda Wu, Michiaki Kubo and 13 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

  1. Genetic discovery using deep learning-derived optic nerve integrity phenotypes.medRxiv : the preprint server for health sciences · 2026
    Article
  2. Article
  3. Unsupervised Clustering for POAG Phenotyping.Investigative ophthalmology & visual science · 2026
    Article
  4. Neuroinflammation in glaucoma: a myriad of cellular pathways and players.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Polygenic Risk Prediction for Normal-Tension Glaucoma.Investigative ophthalmology & visual science · 2025
    Article
  10. The Effect of Carotid Atherosclerosis on the Risk for Open-Angle Glaucoma.Investigative ophthalmology & visual science · 2025
    Article
  11. Article
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

23 authors.

Santiago Diaz-TorresQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Santiago.DiazTorres@qimrberghofer.edu.au.ORCID 0000-0002-5442-9211
Weixiong HeQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Regina YuQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
IGGC International Glaucoma Genetics Consortium
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Christopher J HammondDepartment of Ophthalmology, King's College London, London, UK.ORCID 0000-0002-3227-2620
Pirro G HysiDepartment of Ophthalmology, King's College London, London, UK.ORCID 0000-0001-5752-2510
Louis R PasqualeDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID 0000-0002-5835-3496
Yeda WuQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-5977-1526
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan.ORCID 0000-0002-0095-2322
Masato AkiyamaLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan.
Tin AungOphthalmology & Visual Sciences Academic Clinical Program, Duke-NUS Medical School, Singapore, 169857, Singapore.
Ching-Yu ChengOphthalmology & Visual Sciences Academic Clinical Program, Duke-NUS Medical School, Singapore, 169857, Singapore.ORCID 0000-0003-0655-885X
Chiea Chuen KhorDivision of Human Genetics, Genome Institute of Singapore, Singapore, 138672, Singapore.ORCID 0000-0002-1128-4729
Peter KraftHarvard School of Public Health, Boston, MA, 02114, USA.ORCID 0000-0002-4472-8103
Jae H KangChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.ORCID 0000-0003-4812-0557
Alex W HewittMenzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.ORCID 0000-0002-5123-5999
David A MackeyCentre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, Australia.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Boston, MA, 02114, USA.ORCID 0000-0003-1890-3278
Jue-Sheng OngQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-6062-710X
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-6731-8142
Puya GharahkhaniQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Puya.Gharahkhani@qimrberghofer.edu.au.ORCID 0000-0002-4203-5952

Funding

P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1M
The NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9M
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
Multiomic Framework for GlaucomaR01EY036460 · NEI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI JAE H KANG, Louis Robert Pasquale · 2024 to 2026
$2.4M
BrightFocus Foundation (BrightFocus) G2021009SDepartment of Health | National Health and Medical Research Council (NHMRC) 1173390Department of Health | National Health and Medical Research Council (NHMRC) APP1150144NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY032559NEI NIH HHS R01 EY036460Wellcome Trust
6 · The paper itself

Abstract

Primary open-angle glaucoma typically presents as two subtypes. This study aimed to elucidate the shared and distinct genetic architectures of normal-tension (NTG) and high-tension glaucoma (HTG), motivated by the need to develop intraocular pressure (IOP)-independent drug targets for the disease. We conducted a comprehensive multi-ethnic meta-analysis, prioritized variants based on functional annotation, and explored drug-gene interactions. We further assessed the genetic overlap between NTG and HTG using pairwise GWAS analysis. We identified 22 risk loci associated with NTG, 17 of which have not previously been reported for NTG. Two loci, BMP4 and TBKBP1, have not previously been associated with glaucoma at the genome-wide significance level. Our results indicate that while there is a significant overlap in risk loci between tension subtypes, the magnitude of the effect tends to be lower in NTG compared to HTG, particularly for IOP-related loci. Additionally, we identified a potential role for biologic immunomodulatory treatments as neuroprotective agents.

Indexed as

Bone Morphogenetic Protein 4Genetic Predisposition to DiseaseGenome-Wide Association StudyGlaucoma, Open-AngleIntraocular PressureLow Tension GlaucomaPolymorphism, Single NucleotideFemaleGenetic LociHumansLatent TGF-beta Binding ProteinsBMP4 protein, humanBone Morphogenetic Protein 4Latent TGF-beta Binding Proteins

Identifiers

PMID39551815
PMCPMC11570636

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.