Evidence map›Paper›PMID 41674619›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses.

Asma M Aman, Santiago Diaz-Torres, Samantha Sze-Yee Lee, Sjoerd J Driessen, Victor A de Vries, Frank C T van der Heide, Antonia Kolovos, Joshua M Schmidt, Henry N Marshall, Lania Saleh and 30 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

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

40 authors.

Asma M AmanQIMR Berghofer, Brisbane, Queensland, Australia.
Santiago Diaz-TorresQIMR Berghofer, Brisbane, Queensland, Australia.
Samantha Sze-Yee LeeCentre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Western Australia, Australia.
Sjoerd J DriessenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Victor A de VriesDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Frank C T van der HeideCARIM School for Cardiovascular Diseases, Maastricht University, Maastricht, Netherlands.
Antonia KolovosDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
Joshua M SchmidtDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
Henry N MarshallDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
Lania SalehSection of Ophthalmology, King's College London, London, United Kingdom.
Alicia SchulzeInstitute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center Mainz, Mainz, Germany.
Gabriëlla Am BloklandDepartment of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.
Carroll A B WebersUniversity Eye Clinic Maastricht, Maastricht University Medical Center +, Maastricht, Netherlands.
Carla J H van der KallenCARIM School for Cardiovascular Diseases, Maastricht University, Maastricht, Netherlands.
Anke WesseliusDepartment of Complex Genetics and Epidemiology, NUTRIM School for Nutrition and Translational Research in Metabolism, Maastricht University, Maastricht, Netherlands.
Ilja ArtsMaastricht Centre for Systems Biology, Maastricht University, Maastricht, Netherlands.
Freekje van AstenUniversity Eye Clinic Maastricht, Maastricht University Medical Center +, Maastricht, Netherlands.
Mathias GorskiDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Martina E ZimmermannDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Klaus J StarkDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Iris M HeidDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Terri L YoungDepartment of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, United States.
Louis R PasqualeDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, United States.
Ayellet V SegrèDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, United States.
Janey L WiggsDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, United States.
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom.
Alex W HewittMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Alexander K SchusterDepartment of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Tos T J M BerendschotUniversity Eye Clinic Maastricht, Maastricht University Medical Center +, Maastricht, Netherlands.
Alberta A H J ThiadensDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands.
Karin A van GarderenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Caroline C W KlaverDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Pirro G HysiSection of Ophthalmology, King's College London, London, United Kingdom.
Christopher J HammondSection of Ophthalmology, King's College London, London, United Kingdom.
Caroline BrandlDepartment of Ophthalmology, University of Regensburg, Regensburg, Germany.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
Wishal D RamdasDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands.
Stuart MacGregorQIMR Berghofer, Brisbane, Queensland, Australia.
David A MackeyCentre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Western Australia, Australia.
Puya GharahkhaniQIMR Berghofer, Brisbane, Queensland, Australia.

Funding

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
NEI NIH HHS R01 EY032559NEI NIH HHS R01 EY036460Wellcome Trust
6 · The paper itself

Abstract

We conducted the first genome-wide association meta-analyses of global and sectoral peripapillary retinal nerve fibre layer (pRNFL) thickness and Bruch's membrane opening-minimum rim width (BMO-MRW), the major optic nerve head structural and neurodegeneration biomarkers, including up to 25,942 and 12,080 participants, respectively, from the International Glaucoma Genetics Consortium. We identified 9 global pRNFL thickness and 9 global BMO-MRW loci, along with 28 and 19 loci for pRNFL and BMO-MRW sectors, respectively, comprising both shared and sector-specific loci. To identify intraocular pressure (IOP)-independent drug targets, global pRNFL thickness and BMO-MRW were conditioned on IOP. IOP-independent loci were then prioritised to identify candidate causal genes using transcriptome-wide association study and colocalization analysis. Several genes, such as

Identifiers

PMID41674619
PMCPMC12889747

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.