Evidence map›Paper›PMID 32231278›Full record

SynthesisNature genetics2020

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.

Pirro G Hysi, Hélène Choquet, Anthony P Khawaja, Robert Wojciechowski, Milly S Tedja, Jie Yin, Mark J Simcoe, Karina Patasova, Omar A Mahroo, Khanh K Thai and 20 more

Registry-linked trialOpen access · greenAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06498947 (Factors Influencing Physiological Hyperopia in Children), which is not on this map. Cited by 222 papers, 19 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
222citing papers in PubMed, 19 pooled it
27.3field-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.

NCT06498947 recruitingnot on this mapstarted 2024, after this paper: background citation

Factors Influencing Physiological Hyperopia in Children: A Prospective Nested Case-control Study

TypeobservationalSponsorBeijing Tongren HospitalRan2024 to 2026Enrolled1,006ConditionsMyopia ProgressionArmsThis study was observational with no intervention.
3 · Its place in the literature

Who cites it

222 citing papers in PubMed, 19 syntheses or guidelines pooled it, 330 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
    Pooled it
  2. Association Between Polymorphisms of 4 Common Genes and High Myopia Risk: A Comprehensive Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2026
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Analysing myopia in Europe: A comprehensive meta-analysis.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Pooled it
  6. Pooled it
  7. Pooled it
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  10. Pooled it
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  12. Associations between systemic melatonin and human myopia: A systematic review.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2023
    Pooled it
  13. Pooled it
  14. Pooled it
  15. Myopia prediction: a systematic review.Eye (London, England) · 2022
    Pooled it
  16. Pooled it
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  19. Pooled it
  20. Article

162 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

30 authors at 16 institutions in 5 countries.

Pirro G HysiSection of Ophthalmology, School of Life Course Sciences, King's College London, London, UK. pirro.hysi@kcl.ac.uk.ORCID http://orcid.org/0000-0001-5752-2510
Hélène ChoquetDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.ORCID http://orcid.org/0000-0001-9839-8667
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0001-6802-8585
Robert WojciechowskiDepartment of Biophysics, Johns Hopkins University, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-9593-4652
Milly S TedjaDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-0356-9684
Jie YinDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.
Mark J SimcoeDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0003-2432-0810
Karina PatasovaSection of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.
Omar A MahrooSection of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.
Khanh K ThaiDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.
Phillippa M CumberlandUCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Ronald B MellesDepartment of Ophthalmology Kaiser Permanente Northern California, Redwood City, CA, USA.
Virginie J M VerhoevenDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0001-7359-7862
Veronique VitartMRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-4991-3797
Ayellet SegreDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear, Boston, MA, USA.
Richard A StoneDepartment of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Nick WarehamDepartment of Public Health and Primary Care, Institute of Public Health, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Alex W HewittDepartment of Ophthalmology, Royal Hobart Hospital, Hobart, Tasmania, Australia.ORCID http://orcid.org/0000-0002-5123-5999
David A MackeyDepartment of Ophthalmology, Royal Hobart Hospital, Hobart, Tasmania, Australia.
Caroline C W KlaverDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-2355-5258
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0001-6731-8142
Consortium for Refractive Error and Myopia
Peng T KhawNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0002-8087-2268
Paul J FosterNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0002-4755-177X
UK Eye and Vision Consortium
Jeremy A GuggenheimSchool of Optometry & Vision Sciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-5164-340X
23andMe Inc.
Jugnoo S RahiUCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Eric JorgensonDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.ORCID http://orcid.org/0000-0002-5829-8191
Christopher J HammondSection of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.ORCID http://orcid.org/0000-0002-3227-2620
Moorfields Eye Hospital NHS Foundation Trust · GBKaiser Permanente · USKing's College London · GBErasmus MC · NLCardiff University · GBInstitute of Genetics and Cancer · GBJohns Hopkins University · USKaiser Permanente Redwood City Medical Center · USLions Eye Institute · AUMassachusetts Eye and Ear Infirmary · USQIMR Berghofer Medical Research Institute · AURadboud University Nijmegen · NLRoyal Hobart Hospital · AUUlverscroft (United Kingdom) · GBUniversity of Cambridge · GBUniversity of Pennsylvania · US

Funding

A Resource for Genetic Epidemiology Research in Adult Health and AgingRC2AG036607 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI RISCH, NEIL J., SCHAEFER, CATHERINE ANN · 2009 to 2010
$24.8M
Genetic Epidemiology of Complex TraitsZIAHG200327 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$10.5M
Genetic Epidemiology of Refractive ErrorR01EY020483 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT EDWARD · 2010 to 2014
$2.9M
Genetic Etiology of Abdominal Hernia SusceptibilityR01DK116738 · NIDDK · KAISER FOUNDATION RESEARCH INSTITUTE · PI AHITUV, NADAV, CHOQUET, HELENE · 2018 to 2020
$1.8M
The Role of Refractive Error in the Etiology of GlaucomaR01EY027004 · NEI · KAISER FOUNDATION RESEARCH INSTITUTE · PI CHOQUET, HELENE · 2017 to 2020
$1.6M
Whole-genome Association Analyses of Refractive Error and Myopia in the UK Biobank StudyR21EY027880 · NEI · JOHNS HOPKINS UNIVERSITY · PI WOJCIECHOWSKI, ROBERT J. · 2018 to 2019
$450k
Cancer Research UK C864/A14136Department of Health BRC3_026Medical Research Council G1000143Medical Research Council MC_PC_13048Medical Research Council MC_UU_00007/10Medical Research Council MR/T040912/1NEI NIH HHS R01 EY020483NEI NIH HHS R01 EY027004NEI NIH HHS R21 EY027880NIA NIH HHS RC2 AG036607NIDDK NIH HHS R01 DK116738Wellcome Trust 206619/Z/17/ZWellcome Trust 206619_Z_17_Z
6 · The paper itself

Abstract

Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (area under the curve (AUC) = 0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes that participate in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm and pigmentation are also involved in the development of myopia and refractive error. These results may enable the prediction of refractive error and the development of personalized myopia prevention strategies in the future.

Indexed as

AdultAgedFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedMyopiaPolymorphism, Single NucleotideRefractive ErrorsWhite People

Identifiers

PMID32231278
PMCPMC7145443
OpenAlexW3013807235

What OpenQuestion holds

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Registered trials

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.