Evidence map›Paper›PMID 42238393›Full record

ArticlemedRxiv : the preprint server for health sciences2026

GWAS Meta-analysis Identifies Novel Associated Loci and Points to Causal Tissues in Central Serous Chorioretinopathy.

Liyin Chen, Soo Hyun Kim, Buu Truong, Joel T Rämö, Bryan R Gorman, Elon H C van Dijk, Joost Brinks, Tiit Nikopensius, Seung Hoan Choi, Risto Kajanne and 19 more

Abstract readPreprint
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

29 authors.

Liyin ChenHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.
Soo Hyun KimHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.
Buu TruongBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Joel T RämöInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Bryan R GormanCenter for Data and Computational Sciences (C-DACS), VA Boston Healthcare System, Boston, MA, USA.
Elon H C van DijkDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Joost BrinksDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Tiit NikopensiusEstonian Genome Center, University of Tartu, Tartu, Estonia.
Seung Hoan ChoiCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Risto KajanneInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Juha MehtonenInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Kai KaarnirantaDepartment of Ophthalmology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
Lucia SobrinHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.
Mitja KurkiInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Suzanne YzerDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
VA Million Veteran Program, FinnGen
Wen-Chih WuSection of Cardiology, Medical Service, VA Providence Healthcare System, Providence, RI, USA.
Joni A TurunenEye Genetics Group, Folkhälsan Research Center, Helsinki, Finland.
Ayellet J SegrèHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.
Josep Maria MercaderDiabetes Unit, Massachusetts General Hospital, Boston, MA, USA.
Alicia HuertaBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Mark J DalyInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Patrick T EllinorCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Camiel Jf BoonDepartment of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
Sudha K IyengarCleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.
Neal S PeacheyResearch Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.
Pradeep NatarajanBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Elizabeth J RossinHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.

Funding

TISSUE CULTURE AND HYBRIDOMA MODULEP30EY011373 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI Irina A Pikuleva · 1997 to 2026
$17.7M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1M
RESOURCE/SERVICE CORE C - MOLECULAR INFORMATICS MODULEP30EY025585 · NEI · CLEVELAND CLINIC LERNER COM-CWRU · PI BELA ANAND-APTE · 2016 to 2026
$7.7M
Development of Polygenic Risk Scores for Diabetes and Complications across the Life-Span in Populations of Multiple AncestriesU01HG011723 · NHGRI · BROAD INSTITUTE, INC. · PI Alisa Knodle Manning, Josep Maria Mercader · 2021 to 2026
$5.7M
GEneration and assessment of Multi-omic informed Subtypes of Type 2 Diabetes in Diverse Populations (GEMS-T2D)U01DK140757 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Josep Maria Mercader, KRISTINA Marie UTZSCHNEIDER · 2024 to 2026
$2.3M
Cataloging multi-ancestry 'omic readouts of the environmental and genetic determinants of type 2 diabetesR01DK137993 · NIDDK · HARVARD MEDICAL SCHOOL · PI ARJUN KUMAR MANRAI, Josep Maria Mercader · 2024 to 2026
$2.0M
Massive-scale genomic risk assessment to inform precision medicine across the spectrum of monogenic and common forms of diabetesR01DK140545 · NIDDK · BROAD INSTITUTE, INC. · PI Josep Maria Mercader, Miriam Sargon Udler · 2025 to 2026
$1.6M
Genetics of central serous chorioretinopathy and choroidal thickeningK23EY035342 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Elizabeth Jeffries Rossin · 2024 to 2026
$831k
BLRD VA I01 BX003364BLRD VA I01 BX004557BLRD VA IK6 BX005233NEI NIH HHS K23 EY035342NEI NIH HHS P30 EY011373NEI NIH HHS P30 EY014104NEI NIH HHS P30 EY025585NHGRI NIH HHS U01 HG011723NIDDK NIH HHS R01 DK137993NIDDK NIH HHS R01 DK140545NIDDK NIH HHS U01 DK140757
6 · The paper itself

Abstract

Objective: To define CSC genetic architecture and identify implicated ocular tissues, cell types, genes, and circulating proteins. Data Sources: Genome-wide data were assembled from FinnGen, All of Us, Mass General Brigham Biobank, Million Veteran Program, and a Dutch chronic CSC cohort. Serum protein quantitative trait loci, human single-cell ocular atlases, and UK Biobank macular optical coherence tomography (OCT) imaging were used for downstream analyses. Study Selection: Five European-ancestry cohorts with genome-wide data and cohort-specific CSC case-control definitions were included, comprising 2,584 cases and 1,044,455 controls. Variants present in at least 2 cohorts were meta-analyzed. Data Extraction and Synthesis: Cohort-level GWASs were adjusted for age, age squared, sex, genotyping array or batch, and 10 genetic principal components, then combined using fixed-effects inverse-variance meta-analysis. Post-GWAS analyses included gene prioritization, colocalization, Mendelian randomization, single-cell disease-relevance scoring, and testing of a CSC genetic risk score in UK Biobank OCT images. Main Outcomes and Measures: Genome-wide significant CSC loci, effector genes and proteins, tissue and cell-type enrichment, and CSC-relevant OCT abnormalities. Results: Across 11,068,938 variants, 10 loci reached genome-wide significance ( Conclusions and Relevance: In this GWAS meta-analysis, CSC susceptibility localized predominantly to scleral and vascular biology rather than primary retinal pigment epithelial dysfunction. These findings support CSC as a sclerovascular disorder and nominate complement regulation, endothelial signaling, and extracellular matrix pathways for future study.

Identifiers

PMID42238393
PMCPMC13228790

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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 OpenQuestion graph.