Evidence map›Paper›PMID 20835238›Full record

ArticleNature genetics2010

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Gudmar Thorleifsson, G Bragi Walters, Alex W Hewitt, Gisli Masson, Agnar Helgason, Andrew DeWan, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Sigurjon A Gudjonsson, Kristinn P Magnusson and 37 more

Abstract readComparative Study
In one paragraph

Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 224 papers, 13 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
224citing papers in PubMed, 13 pooled it
31.7field-weighted citation impact, top 1% of its field
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

224 citing papers in PubMed, 13 syntheses or guidelines pooled it, 396 citations in OpenAlex.

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  17. Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026
    Article
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164 more citing papers are in PubMed but not listed here.

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

47 authors at 20 institutions in 6 countries.

Gudmar ThorleifssondeCODE genetics Inc, Reykjavik, Iceland. gudmar.thorleifsson@decode.is
G Bragi Walters
Alex W Hewitt
Gisli Masson
Agnar Helgason
Andrew DeWan
Asgeir Sigurdsson
Adalbjorg Jonasdottir
Sigurjon A Gudjonsson
Kristinn P Magnusson
Hreinn Stefansson
Dennis S C Lam
Pancy O S Tam
Gudrun J Gudmundsdottir
Laura Southgate
Kathryn P Burdon
Maria Soffia Gottfredsdottir
Micheala A Aldred
Paul Mitchell
David St Clair
David A Collier
Nelson Tang
Orn Sveinsson
Stuart Macgregor
Nicholas G Martin
Angela J Cree
Jane Gibson
Alex Macleod
Aby Jacob
Sarah Ennis
Terri L Young
Juliana C N Chan
Wojciech S S Karwatowski
Christopher J Hammond
Kristjan Thordarson
Mingzhi Zhang
Claes Wadelius
Andrew J Lotery
Richard C Trembath
Chi Pui Pang
Josephine Hoh
Jamie E Craig
Augustine Kong
David A Mackey
Fridbert Jonasson
Unnur Thorsteinsdottir
Kari Stefansson
deCODE Genetics (Iceland) · ISChinese University of Hong Kong · CNUniversity of Southampton · GBCentre for Eye Research Australia · AUFlinders Medical Centre · AUGuy's Hospital · GBKing's College London · GBQIMR Berghofer Medical Research Institute · AUUniversity Hospital Southampton NHS Foundation Trust · GBUniversity of Iceland · ISYale University · USCenter for Human Genetics · USCleveland Clinic · USNational University Hospital of Iceland · ISShantou University · CNUniversity Hospitals of Leicester NHS Trust · GBUniversity of Aberdeen · GBUniversity of Akureyri · ISUniversity of Sydney · AUUppsala University · SE

Funding

The Molecular Genetics of High MyopiaR01EY014685 · NEI · UNIVERSITY OF WISCONSIN-MADISON · PI YOUNG, TERRI LOIS · 2003 to 2017
$8.1M
International Collaborative Twin Study of Refractive and Glaucoma EndophenotypesR01EY018246 · NEI · DUKE UNIVERSITY · PI YOUNG, TERRI LOIS · 2007 to 2009
$1.8M
NEI NIH HHS 1R01EY018246NEI NIH HHS R01 EY014685NEI NIH HHS R01 EY018246Wellcome Trust
6 · The paper itself

Abstract

We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 × 10⁻¹⁰). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.

Indexed as

Genetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyAdultAgedAged, 80 and overCase-Control StudiesCaveolin 1Caveolin 2Chromosomes, Human, Pair 7FemaleGenotypeGlaucoma, Open-AngleHumansMaleMiddle AgedCAV1 protein, humanCAV2 protein, humanCaveolin 1Caveolin 2

Identifiers

PMID20835238
PMCPMC3222888
OpenAlexW2051417851

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.