SynthesisPloS one2014
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
2.8field-weighted citation impact, top 10% of its field
What it found
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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.
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.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Association between Insulin-Like Growth Factor 1 Gene rs12423791 or rs6214 Polymorphisms and High Myopia: A Meta-Analysis.PloS one · 2015Pooled it
- Myopia: a review of current concepts, association with nonophthalmological conditions, and treatment strategy in children and adolescents.Clinical and experimental pediatrics · 2025Article
- Identification of loci involved in childhood visual acuity and associations with cognitive skills and educational attainment.NPJ science of learning · 2023Article
- Applications of Genomics and Transcriptomics in Precision Medicine for Myopia Control or Prevention.Biomolecules · 2023Review
- Association of CX36 Protein Encoding GeneGenes · 2022Article
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- The Role of GJD2(Cx36) in Refractive Error Development.Investigative ophthalmology & visual science · 2022Review
- Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.Investigative ophthalmology & visual science · 2021Article
- Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish.Communications biology · 2021Article
- RNA-seq and GSEA identifies suppression of ligand-gated chloride efflux channels as the major gene pathway contributing to form deprivation myopia.Scientific reports · 2021Article
- The Influence of Genetics in Myopia Control: A Pilot Study.Journal of clinical medicine · 2021Article
- Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.Human genetics · 2019Article
- Decreased expression of gap junction delta-2 (GJD2) messenger RNA and connexin 36 protein in form-deprivation myopia of guinea pigs.Chinese medical journal · 2019Article
- Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33.Human genetics · 2019Article
- IMI - Myopia Genetics Report.Investigative ophthalmology & visual science · 2019Review
- Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.BMC medical genetics · 2019Article
- HOXA9 is a novel myopia risk gene.BMC ophthalmology · 2019Article
- Article
- Myopia genetics in genome-wide association and post-genome-wide association study era.International journal of ophthalmology · 2019Review
- Genome-wide DNA hypermethylation and homocysteine increase a risk for myopia.International journal of ophthalmology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
54 authors at 20 institutions in 10 countries.
Claire L SimpsonNational Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States of America.
Robert WojciechowskiNational Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States of America; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America.
Konrad OexleInstitute of Human Genetics, Technische Universität München, Munich, Germany.
Federico MurgiaInstitute of Population Genetics, National Research Council of Italy, Sassari, Italy.
Laura PortasInstitute of Population Genetics, National Research Council of Italy, Sassari, Italy.
Xiaohui LiInstitute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, United States of America.
Virginie J M VerhoevenDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Veronique VitartMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, United Kingdom.
Maria SchacheCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
S Mohsen HosseiniProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, and DCCT/EDIC Research Group, The Diabetes Control and Complications Trial and Follow-up Study, The Biostatistics Center, The George Washington University, Rockville, Maryland, United States of America.
Pirro G HysiDepartment of Twin Research & Genetic Epidemiology, King's College London, St Thomas' Hospital, London, United Kingdom.
Leslie J RaffelMedical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.
Mary Frances CotchDivision of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
Emily ChewDivision of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
Barbara E K KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States of America.
Ronald KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States of America.
Tien Yin WongCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia; Singapore Eye Research Institute, National University of Singapore, Singapore, Singapore.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Paul MitchellCentre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, Sydney, Australia.
Seang Mei SawDepartment of Epidemiology and Public Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Maurizio FossarelloDipartimento di Scienze Chirurgiche, Clinica Oculistica Universita' degli studi di Cagliari, Cagliari, Italy.
Jie Jin WangCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, Sydney, Australia.
DCCT/EDIC Research Group
Ozren PolašekCroatian Centre for Global Health, University of Split Medical School, Split, Croatia.
Harry CampbellCentre for Population Health Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Igor RudanCentre for Population Health Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Ben A OostraDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague, the Netherlands.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague, the Netherlands.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague, the Netherlands.
Najaf AminDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Lennart C KarssenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Johannes R VingerlingDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Angela DöringInstitute of Epidemiology, Helmholtz Zentrum München, Neuherberg, Germany.
Thomas BetteckenInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Goran BencicDepartment of Ophthalmology, Hospital "Sestre Milosrdnice", Zagreb, Croatia.
Christian GiegerInstitute of Genetic Epidemiology, Helmholtz Zentrum München, Neuherberg, Germany.
H-Erich WichmannInstitute of Epidemiology, Helmholtz Zentrum München, Neuherberg, Germany.
James F WilsonCentre for Population Health Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Cristina VenturiniDepartment of Twin Research & Genetic Epidemiology, King's College London, St Thomas' Hospital, London, United Kingdom.
Brian FleckPrincess Alexandra Eye Pavilion, Edinburgh, United Kingdom.
Phillippa M CumberlandMRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, United Kingdom.
Jugnoo S RahiMRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom; Ulverscroft Vision Research Group, Institute of Child Health, University College London, London, United Kingdom.
Chris J HammondDepartment of Twin Research & Genetic Epidemiology, King's College London, St Thomas' Hospital, London, United Kingdom.
Caroline HaywardMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, United Kingdom.
Alan F WrightMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, United Kingdom.
Andrew D PatersonProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, and DCCT/EDIC Research Group, The Diabetes Control and Complications Trial and Follow-up Study, The Biostatistics Center, The George Washington University, Rockville, Maryland, United States of America.
Paul N BairdCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
Caroline C W KlaverDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Jerome I RotterInstitute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, United States of America.
Mario PirastuInstitute of Population Genetics, National Research Council of Italy, Sassari, Italy.
Thomas MeitingerInstitute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Joan E Bailey-WilsonNational Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States of America.
Dwight StambolianDepartment of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Erasmus MC · NLHelmholtz Zentrum München · DENational Institutes of Health · USInstitute of Genetics and Cancer · GBNational Academies of Sciences, Engineering, and Medicine · USSt Thomas' Hospital · GBThe University of Melbourne · AUUniversity of Edinburgh · GBThe University of Sydney · AUUniversity of California, Los Angeles · USUniversity of Toronto · CAUniversity of Wisconsin–Madison · USCedars-Sinai Medical Center · USInstitute of Child Health · INNational University of Singapore · SGNetherlands Consortium for Healthy Ageing · NLNHS Lothian · GBSisters of Charity Hospital · HRTechnical University of Munich · DEUniversity College London · GB
Funding
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MCTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024156 · NCRR · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2006 to 2011
$53.0MUniversity of Minnesota Clinical and Translational Science Institute (UMN CTSI)UL1TR000114 · NCATS · UNIVERSITY OF MINNESOTA · PI BLAZAR, BRUCE R · 2012 to 2015
$35.0MYale University Clinical and Translational Science Award ProgramUL1TR000142 · NCATS · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2012 to 2015
$31.8MEpidemiology of Diabetes Interventions and Complications Data Coordinating CenterU01DK094176 · NIDDK · GEORGE WASHINGTON UNIVERSITY · PI BEBU, IONUT, BRAFFETT, BARBARA HALINA · 2012 to 2022
$30.8MUCLA CLINICAL AND TRANSLATIONAL SCIENCE INSTITUTEUL1RR033176 · NCRR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2011 to 2011
$15.5MGenetic Epidemiology of Complex TraitsZIAHG200327 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$10.5MEpidemiology 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
$7.0MGenetic Epidemiology of Refractive ErrorR01EY020483 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT EDWARD · 2010 to 2014
$2.9MGenome-wide association of common alleles with long-term diabetic complicationsR01DK077510 · NIDDK · HOSPITAL FOR SICK CHLDRN (TORONTO) · PI PATERSON, ANDREW D · 2006 to 2008
$2.3MEPIDEMIOLOGY OF DIABETES INTERVENTIONS &COMPLICATIONSN01DK062204 · NIDDK · GEORGE WASHINGTON UNIVERSITY · 1996 to 2004
$2.1MMulti-ethnic Study Of Atherosclerosis - Vision ComponentZIAEY000403 · NEI · NATIONAL EYE INSTITUTE · PI COTCH, MARY FRANCES · 2009 to 2020
$1.8MChief Scientist Office CZB/4/438Chief Scientist Office CZB/4/710Department of Health SRF/01/010Intramural NIH HHS Z01 EY000403Intramural NIH HHS Z99 EY999999Intramural NIH HHS ZIA EY000403Medical Research Council MC_PC_U127561128Medical Research Council MC_U127584475NCATS NIH HHS UL1 TR000114NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1TR000124NCATS NIH HHS UL1 TR000142NCRR NIH HHS RR-024156NCRR NIH HHS UL1 RR024156NCRR NIH HHS UL1 RR033176NCRR NIH HHS UL1RR033176NEI NIH HHS K08 EY022943NEI NIH HHS R01 EY016379NEI NIH HHS R01EY016379NEI NIH HHS R01 EY020483NEI NIH HHS R01EY020483NHGRI NIH HHS HHSN268200782096CNHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N01 HC-95159NHLBI NIH HHS N01-HC-95160NHLBI NIH HHS N01-HC-95161NHLBI NIH HHS N01-HC-95162NHLBI NIH HHS N01-HC-95163NHLBI NIH HHS N01-HC-95164NHLBI NIH HHS N01-HC-95165NHLBI NIH HHS N01-HC-95166NHLBI NIH HHS N01-HC-95167NHLBI NIH HHS N01-HC-95168NHLBI NIH HHS N01-HC-95169NHLBI NIH HHS N02-HL-6-4278NIDDK NIH HHS N01-DK-6-2204NIDDK NIH HHS R01 DK077510NIDDK NIH HHS R01-DK-077510NIDDK NIH HHS U01 DK094176PHS HHS ZIAEY000403Wellcome TrustWellcome Trust 085475/08/ZWellcome Trust 085475/B/08/Z
Abstract
Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error across the distribution.
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AdultAgedAged, 80 and overAge of OnsetAllelesEyeFemaleGenetic Association StudiesGenetic MarkersGenetic Predisposition to DiseaseHumansHyperopiaLinkage DisequilibriumMaleMiddle AgedMyopiaGenetic Markers
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