Evidence map›Paper›PMID 23396134›Full record

SynthesisNature genetics2013

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Virginie J M Verhoeven, Pirro G Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A Guggenheim, René Höhn, Stuart MacGregor, Alex W Hewitt, Abhishek Nag, Ching-Yu Cheng and 103 more

Erratum issuedOpen access · bronzeAbstract readMeta-AnalysisMulticenter Study
In one paragraph

Synthesis in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 276 papers, 14 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
276citing papers in PubMed, 14 pooled it
29.5field-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

276 citing papers in PubMed, 14 syntheses or guidelines pooled it, 476 citations in OpenAlex.

  1. Polygenic Risk Scores for Myopia: A Systematic Review of Predictive Performance and Clinical Potential.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2026
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  5. Myopia and Near Work: A Systematic Review and Meta-Analysis.International journal of environmental research and public health · 2023
    Pooled it
  6. Myopia prediction: a systematic review.Eye (London, England) · 2022
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216 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
    Janmahasathian, Sarayut [corrected to Sarayut Janmahasatian]
5 · Who and what money

Authors and funding

113 authors at 20 institutions in 13 countries.

Virginie J M VerhoevenDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Pirro G Hysi
Robert Wojciechowski
Qiao Fan
Jeremy A Guggenheim
René Höhn
Stuart MacGregor
Alex W Hewitt
Abhishek Nag
Ching-Yu Cheng
Ekaterina Yonova-Doing
Xin Zhou
M Kamran Ikram
Gabriëlle H S Buitendijk
George McMahon
John P Kemp
Beate St Pourcain
Claire L Simpson
Kari-Matti Mäkelä
Terho Lehtimäki
Mika Kähönen
Andrew D Paterson
S Mohsen Hosseini
Hoi Suen Wong
Liang Xu
Jost B Jonas
Olavi Pärssinen
Juho Wedenoja
Shea Ping Yip
Daniel W H Ho
Chi Pui Pang
Li Jia Chen
Kathryn P Burdon
Jamie E Craig
Barbara E K Klein
Ronald Klein
Toomas Haller
Andres Metspalu
Chiea-Chuen Khor
E-Shyong Tai
Tin Aung
Eranga Vithana
Wan-Ting Tay
Veluchamy A Barathi
Consortium for Refractive Error and Myopia (CREAM)
Peng Chen
Ruoying Li
Jiemin Liao
Yingfeng Zheng
Rick T Ong
Angela Döring
Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group
David M Evans
Nicholas J Timpson
Annemieke J M H Verkerk
Thomas Meitinger
Olli Raitakari
Felicia Hawthorne
Tim D Spector
Lennart C Karssen
Mario Pirastu
Federico Murgia
Wei Ang
Wellcome Trust Case Control Consortium 2 (WTCCC2)
Aniket Mishra
Grant W Montgomery
Craig E Pennell
Phillippa M Cumberland
Ioana Cotlarciuc
Paul Mitchell
Jie Jin Wang
Maria Schache
Sarayut Janmahasatian
Sarayut Janmahasathian
Robert P Igo
Jonathan H Lass
Emily Chew
Sudha K Iyengar
Fuchs' Genetics Multi-Center Study Group
Theo G M F Gorgels
Igor Rudan
Caroline Hayward
Alan F Wright
Ozren Polasek
Zoran Vatavuk
James F Wilson
Brian Fleck
Tanja Zeller
Alireza Mirshahi
Christian Müller
André G Uitterlinden
Fernando Rivadeneira
Johannes R Vingerling
Albert Hofman
Ben A Oostra
Najaf Amin
Arthur A B Bergen
Yik-Ying Teo
Jugnoo S Rahi
Veronique Vitart
Cathy Williams
Paul N Baird
Tien-Yin Wong
Konrad Oexle
Norbert Pfeiffer
David A Mackey
Terri L Young
Cornelia M van Duijn
Seang-Mei Saw
Joan E Bailey-Wilson
Dwight Stambolian
Caroline C Klaver
Christopher J Hammond
Erasmus MC · NLNational University Health System · SGUniversity of Bristol · GBKing's College London · GBNational University of Singapore · SGCase Western Reserve University · USQIMR Berghofer Medical Research Institute · AUUniversity of Edinburgh · GBHong Kong Polytechnic University · HKNational Human Genome Research Institute · USSingapore National Eye Center · SGUniversity of Melbourne · AUUniversity of Western Australia · AUFimlab (Finland) · FIFlinders University · AUHelmholtz Zentrum München · DENational Research Council · ITNetherlands Institute for Neuroscience · NLTechnical University of Munich · DEUniversität Hamburg · DE

Funding

THE FRAMINGHAM HEART STUDYN01HC25195 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI RAMACHANDRAN, VASAN S · 2007 to 2014
$83.8M
UNM HSC Clinical and Translational Science CenterUL1TR001449 · NCATS · UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR · PI CAMPEN, MATTHEW J, PANDHI, NANCY · 2015 to 2024
$36.9M
TISSUE CULTURE AND HYBRIDOMA MODULEP30EY011373 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI Irina A Pikuleva · 1997 to 2026
$17.7M
University of Utah, Core Vision Research GrantP30EY014800 · NEI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Bryan William Jones · 2005 to 2026
$14.6M
Genetic Epidemiology of Complex TraitsZIAHG200327 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$10.5M
University of New Mexico Clinical and Translational Science CenterUL1TR000041 · NCATS · UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR · PI LARSON, RICHARD S · 2012 to 2014
$9.8M
SNP HEALTH ASSOCIATION RESOURCE (SHARE)N02HL64278 · NHLBI · PI CHIN, SIANG · 2007 to 2007
$9.2M
Epidemiology of Retinopathy and other Complications in Long Term Type 1 DiabetesR01EY016379 · NEI · UNIVERSITY OF WISCONSIN-MADISON · PI KLEIN, BARBARA EDEN, KLEIN, RONALD · 2005 to 2016
$7.0M
A Multi-Center Study To Map Genes for Fuchs'DystrophyR01EY016482 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI IYENGAR, SUDHA K · 2005 to 2009
$3.8M
Genetic Epidemiology of Refractive ErrorR01EY020483 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT EDWARD · 2010 to 2014
$2.9M
Genome-wide association of common alleles with long-term diabetic complicationsR01DK077510 · NIDDK · HOSPITAL FOR SICK CHLDRN (TORONTO) · PI PATERSON, ANDREW D · 2006 to 2008
$2.3M
EPIDEMIOLOGY OF DIABETES INTERVENTIONS &COMPLICATIONSN01DK062204 · NIDDK · GEORGE WASHINGTON UNIVERSITY · 1996 to 2004
$2.1M
Chief Scientist Office CZB/4/438Chief Scientist Office CZB/4/710Department of Health CDF-2009-02-35Department of Health SRF/01/010Intramural NIH HHSMedical Research Council 4882Medical Research Council G9815508Medical Research Council MC_PC_U127561128Medical Research Council MC_U127584475NCATS NIH HHS UL1 TR000041NCATS NIH HHS UL1 TR001449NEI NIH HHS 1K08EY022943‐01NEI NIH HHS 1R01EY018246NEI NIH HHS EY016379NEI NIH HHS K08 EY022943NEI NIH HHS N01EY22112NEI NIH HHS N01EY92109NEI NIH HHS P30 EY014800NEI NIH HHS P30EY11373NEI NIH HHS R01 EY016482NEI NIH HHS R01 EY018246NEI NIH HHS R01EY01824601NEI NIH HHS R01 EY020483NEI NIH HHS R01EY020483NEI NIH HHS R01 EY023196NEI NIH HHS R01EY03083NEI NIH HHS R01EY16482NEI NIH HHS R21EY015145NHLBI NIH HHS N01HC25195NHLBI NIH HHS N02HL64278NIDDK NIH HHS N01 DK062204NIDDK NIH HHS N01‐DK‐6‐2204NIDDK NIH HHS R01 DK‐077510NIDDK NIH HHS R01 DK077510Wellcome Trust 076113Wellcome Trust 076467Wellcome Trust 083478Wellcome Trust 08547508ZWellcome Trust 085475B08ZWellcome Trust 090532Wellcome Trust 092731Wellcome Trust WT083431MA
6 · The paper itself

Abstract

Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.

Indexed as

Genome-Wide Association StudyAlcohol OxidoreductasesAsian PeopleBone Morphogenetic Protein 2Genetic Predisposition to DiseaseHomeodomain ProteinsHumansKCNQ Potassium ChannelsLamininMyopiaReceptors, AMPARefractive ErrorsRisk FactorsSerine ProteasesTrans-ActivatorsWhite PeopleAlcohol OxidoreductasesBMP2 protein, humanBone Morphogenetic Protein 2glutamate receptor ionotropic, AMPA 4Homeodomain ProteinsKCNQ5 protein, humanKCNQ Potassium ChannelsLamininlaminin alpha 2PRSS56 protein, humanReceptors, AMPAretinol dehydrogenase 5Serine ProteasesSIX6 protein, humanTrans-Activators

Identifiers

PMID23396134
PMCPMC3740568
OpenAlexW2136376873

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.