Evidence map›Paper›PMID 38766240›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Rare genetic variation in VE-PTP is associated with central serous chorioretinopathy, venous dysfunction and glaucoma.

Joel T Rämö, Bryan Gorman, Lu-Chen Weng, Sean J Jurgens, Panisa Singhanetr, Marisa G Tieger, Elon Hc van Dijk, Christopher W Halladay, Xin Wang, Joost Brinks and 19 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. 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

5 · Who and what money

Authors and funding

29 authors.

Joel T RämöInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Bryan GormanCenter for Data and Computational Sciences (C-DACS), VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.
Lu-Chen WengCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Sean J JurgensCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-1605-9782
Panisa SinghanetrMassachusetts Eye and Ear, Boston, MA, USA.
Marisa G TiegerNew England Eye Center, Tufts Medical Center, Boston, MA, USA.
Elon Hc van DijkDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Christopher W HalladayCenter of Innovation in Long Term Services and Supports, Providence VA Medical Center, Providence, RI, USA.
Xin WangCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-0322-8970
Joost BrinksDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Seung Hoan ChoiDepartment of Biostatistics, Boston University, Boston, MA, USA.
Yuyang LuoMassachusetts Eye and Ear, Boston, MA, USA.
FinnGen
VA Million Veteran Program
Saiju PyarajanVA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.
Cari L NealonEye Clinic, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.
Michael B GorinDepartment of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California, Los Angeles, Los Angeles, CA, USA.
Wen-Chih WuSection of Cardiology, Medical Service, VA Providence Healthcare System, Providence, RI, USA.ORCID 0000-0002-2834-2024
Lucia SobrinHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.
Kai KaarnirantaDepartment of Ophthalmology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
Suzanne YzerDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Neal S PeacheyResearch Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.
Joni A TurunenFolkhälsan Research Center, Biomedicum, Helsinki, Finland.
Camiel Jf BoonDepartment of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
Patrick T EllinorCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-2067-0533
Sudha K IyengarResearch Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.
Mark J DalyInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Elizabeth J RossinHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.

Funding

Technology to Empower Changes in Health (TECH) Network Participant Technologies CenterU24OD023176 · OD · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2016 to 2022
$204.7M
Precision Medicine Initiative Cohort Program BiobankU24OD023121 · OD · MAYO CLINIC ROCHESTER · PI CEKANOVA, MARIA, CICEK, MINE · 2016 to 2024
$185.5M
Enhancing All of Us Data Resources for Nutrition Precision Health: the All of Us Data and Research CenterU2COD023196 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, DAVID, HARRIS, PAUL A. · 2016 to 2022
$143.7M
Adaptive Platform for Personalized EngagementU24OD023163 · OD · VIGNET, INC. · PI JAIN, PRADUMAN · 2017 to 2020
$102.6M
University of Arizona-Banner Health All of Us Research Program OT2OD026549 · OD · UNIVERSITY OF ARIZONA · PI MORENO, FRANCISCO A, REIMAN, ERIC MICHAEL · 2018 to 2023
$78.9M
California Precision Medicine Research Program ConsortiumOT2OD026552 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANTON-CULVER, HODA A, OHNO-MACHADO, LUCILA · 2018 to 2023
$73.4M
All of Us PennsylvaniaOT2OD026554 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E, VISWESWARAN, SHYAM · 2018 to 2023
$72.1M
New York City Consortium for Precision MedicineOT2OD026556 · OD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BIER, LOUISE E, GHARAVI, ALI G · 2018 to 2023
$67.3M
SouthEast Enrollment Center (SEEC) OT2OD026551 · OD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN, COLON, VIVIAN · 2018 to 2023
$62.8M
Southern All of Us NetworkOT2OD026548 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FOUAD, MONA N., KORF, BRUCE R · 2018 to 2023
$60.5M
Illinois Precision Medicine Consortium OT2OD026557 · OD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI AHSAN, HABIBUL, ARGOS, MARIA · 2018 to 2023
$60.5M
The New England Precision Medicine Consortium of the All of Us Research ProgramOT2OD026553 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI CLARK, CHERYL RENEE, KARLSON, ELIZABETH W · 2018 to 2023
$58.8M
BLRD VA I01 BX003364BLRD VA I01 BX004557BLRD VA IK6 BX005233NEI NIH HHS K12 EY016335NEI NIH HHS K23 EY035342NEI NIH HHS P30 EY011373NEI NIH HHS P30 EY025585NIH HHS OT2 OD023205NIH HHS OT2 OD023206NIH HHS OT2 OD025276NIH HHS OT2 OD025277NIH HHS OT2 OD025315NIH HHS OT2 OD025337NIH HHS OT2 OD026548NIH HHS OT2 OD026549NIH HHS OT2 OD026550NIH HHS OT2 OD026551NIH HHS OT2 OD026552NIH HHS OT2 OD026553NIH HHS OT2 OD026554NIH HHS OT2 OD026555NIH HHS OT2 OD026556NIH HHS OT2 OD026557NIH HHS U24 OD023121NIH HHS U24 OD023163NIH HHS U24 OD023176NIH HHS U2C OD023196Wellcome Trust
6 · The paper itself

Abstract

Central serous chorioretinopathy (CSC) is a fluid maculopathy whose etiology is not well understood. Abnormal choroidal veins in CSC patients have been shown to have similarities with varicose veins. To identify potential mechanisms, we analyzed genotype data from 1,477 CSC patients and 455,449 controls in FinnGen. We identified an association for a low-frequency (AF=0.5%) missense variant (rs113791087) in the gene encoding vascular endothelial protein tyrosine phosphatase (VE-PTP) (OR=2.85, P=4.5×10

Indexed as

central serous chorioretinopathyGeneticsglaucomaPTPRBvaricose veinsvascular endothelial protein tyrosine phosphatasevenous thromboembolismVEPTP

Identifiers

PMID38766240
PMCPMC11100937

What OpenQuestion holds

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Registered trials

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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.