Evidence map›Paper›PMID 22570627›Full record

SynthesisPLoS genetics2012

Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

Leonieke M E van Koolwijk, Wishal D Ramdas, M Kamran Ikram, Nomdo M Jansonius, Francesca Pasutto, Pirro G Hysi, Stuart Macgregor, Sarah F Janssen, Alex W Hewitt, Ananth C Viswanathan and 41 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
108citing papers in PubMed, 7 pooled it
18.2field-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

108 citing papers in PubMed, 7 syntheses or guidelines pooled it, 204 citations in OpenAlex.

  1. Pooled it
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  18. Single-nucleotide polymorphisms ofExperimental biology and medicine (Maywood, N.J.) · 2023
    Article
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48 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

51 authors at 20 institutions in 8 countries.

Leonieke M E van KoolwijkGlaucoma Service, The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
Wishal D Ramdas
M Kamran Ikram
Nomdo M Jansonius
Francesca Pasutto
Pirro G Hysi
Stuart Macgregor
Sarah F Janssen
Alex W Hewitt
Ananth C Viswanathan
Jacoline B ten Brink
S Mohsen Hosseini
Najaf Amin
Dominiek D G Despriet
Jacqueline J M Willemse-Assink
Rogier Kramer
Fernando Rivadeneira
Maksim Struchalin
Yurii S Aulchenko
Nicole Weisschuh
Matthias Zenkel
Christian Y Mardin
Eugen Gramer
Ulrich Welge-Lüssen
Grant W Montgomery
Francis Carbonaro
Terri L Young
DCCT/EDIC Research Group
Céline Bellenguez
Peter McGuffin
Paul J Foster
Fotis Topouzis
Paul Mitchell
Jie Jin Wang
Tien Y Wong
Monika A Czudowska
Albert Hofman
Andre G Uitterlinden
Roger C W Wolfs
Paulus T V M de Jong
Ben A Oostra
Andrew D Paterson
Wellcome Trust Case Control Consortium 2
David A Mackey
Arthur A B Bergen
André Reis
Christopher J Hammond
Johannes R Vingerling
Hans G Lemij
Caroline C W Klaver
Cornelia M van Duijn
Erasmus MC · NLKing's College London · GBFriedrich-Alexander-Universität Erlangen-Nürnberg · DERoyal Netherlands Academy of Arts and Sciences · NLHospital for Sick Children · CAQIMR Berghofer Medical Research Institute · AUAcademic Medical Center · NLAHEPA University Hospital · GRAmphia Ziekenhuis · NLCentre for Eye Research Australia · AUCentre for Human Genetics · GBDuke University · USMoorfields Eye Hospital NHS Foundation Trust · GBNational University of Singapore · SGRotterdam Eye Hospital · NLSint Franciscus Gasthuis · NLSTZ eyetrial · DEUniversitätsklinikum Würzburg · DEUniversity College London · GBUniversity Medical Center Groningen · NL

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
Department of Health SRF/01/010Medical Research Council G0000934NEI NIH HHS 1R01EY018246NEI NIH HHS R01 EY014685NEI NIH HHS R01 EY018246NEI NIH HHS R01 EY 018246-01Wellcome Trust 068545/Z/02Wellcome Trust 085475/B/08/ZWellcome Trust 085475/Z/08/ZWellcome Trust 090532
6 · The paper itself

Abstract

Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a genome-wide association study for IOP in 11,972 participants from 4 independent population-based studies in The Netherlands. We replicated our findings in 7,482 participants from 4 additional cohorts from the UK, Australia, Canada, and the Wellcome Trust Case-Control Consortium 2/Blue Mountains Eye Study. IOP was significantly associated with rs11656696, located in GAS7 at 17p13.1 (p=1.4×10(-8)), and with rs7555523, located in TMCO1 at 1q24.1 (p=1.6×10(-8)). In a meta-analysis of 4 case-control studies (total N = 1,432 glaucoma cases), both variants also showed evidence for association with glaucoma (p=2.4×10(-2) for rs11656696 and p=9.1×10(-4) for rs7555523). GAS7 and TMCO1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa, optic nerve, and retina. Both genes functionally interact with known glaucoma disease genes. These data suggest that we have identified two clinically relevant genes involved in IOP regulation.

Indexed as

Genome-Wide Association StudyAgedAged, 80 and overCase-Control StudiesCiliary BodyFemaleGlaucoma, Open-AngleHumansIntraocular PressureMaleMiddle AgedNerve Tissue ProteinsOptic NervePolymorphism, Single NucleotideTrabecular MeshworkGAS7 protein, humanNerve Tissue Proteins

Identifiers

PMID22570627
PMCPMC3342933
OpenAlexW2052202737

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.