Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Open accessAbstract
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.
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GRIA4 was identified as a susceptibility locus for refractive error and myopia.
“GRIA4 was also identified as a susceptibility locus for refractive error and myopia (Verhoeven et al. 2013)”
From Genomic Analyses Unveil Helmeted Guinea Fowl (<i>Numida meleagris</i>) Domestication in West Africa (2021) · cites this paper as Verhoeven et al. 2013
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- Authors
- Consortium for Refractive Error and Myopia (CREAM), Verhoeven, V. J. M., The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group, Wellcome Trust Case Control Consortium 2 (WTCCC2), The Fuchs' Genetics Multi-Center Study Group, Hysi, P. G., Wojciechowski, R., Fan, Q., Guggenheim, J. A., Höhn, R., MacGregor, S., Hewitt, A. W., Nag, A., Cheng, C.-Y., Yonova-Doing, E., Zhou, X., Ikram, M. K., Buitendijk, G. H. S., McMahon, G., Kemp, J. P., Pourcain, B. S., Simpson, C. L., Mäkelä, K.-M., Lehtimäki, T., Kähönen, M., Paterson, A. D., Hosseini, S. M., Wong, H. S., Xu, L., Jonas, J. B., Pärssinen, O., Wedenoja, J., Yip, S. P., Ho, D. W. H., Pang, C. P., Chen, L. J., Burdon, K. P., Craig, J. E., Klein, B. E. K., Klein, R., Haller, T., Metspalu, A., Khor, C.-C., Tai, E.-S., Aung, T., Vithana, E., Tay, W.-T., Barathi, V. A., Chen, P., Li, R., Liao, J., Zheng, Y., Ong, R. T., Döring, A., Evans, D. M., Timpson, N. J., Verkerk, A. J. M. H., Meitinger, T., Raitakari, O., Hawthorne, F., Spector, T. D., Karssen, L. C., Pirastu, M., Murgia, F., Ang, W., Mishra, A., Montgomery, G. W., Pennell, C. E., Cumberland, P. M., Cotlarciuc, I., Mitchell, P., Wang, J. J., Schache, M., Janmahasatian, S., Jr, R. P. I., Lass, J. H., Chew, E., Iyengar, S. K., Gorgels, T. G. M. F., Rudan, I., Hayward, C., Wright, A. F., Polasek, O., Vatavuk, Z., Wilson, J. F., Fleck, B., Zeller, T., Mirshahi, A., Müller, C., Uitterlinden, A. G., Rivadeneira, F., Vingerling, J. R., Hofman, A., Oostra, B. A., Amin, N., Bergen, A. A. B., Teo, Y.-Y., Rahi, J. S., Vitart, V., Williams, C., Baird, P. N., Wong, T.-Y., Oexle, K., Pfeiffer, N., Mackey, D. A., Young, T. L., van Duijn, C. M., Saw, S.-M., Bailey-Wilson, J. E., Stambolian, D., Klaver, C. C., & Hammond, C. J.
- Affiliations
- Erasmus MC (NL)
- King's College London (GB)
- National Institutes of Health (US)
- National University of Singapore (SG)
- Hong Kong Polytechnic University (HK)
- University Medical Center of the Johannes Gutenberg University Mainz (DE)
- QIMR Berghofer Medical Research Institute (AU)
- Lions Eye Institute (AU)
- University of Bristol (GB)
- Fimlab (Finland) (FI)
- Tampere University Hospital (FI)
- University of Toronto (CA)
- Beijing Tongren Hospital (CN)
- Heidelberg University (DE)
- Central Finland Health Care District (FI)
- University of Helsinki (FI)
- Chinese University of Hong Kong (HK)
- Flinders University (AU)
- University of Wisconsin–Madison (US)
- University of Tartu (EE)
- Singapore National Eye Center (SG)
- Helmholtz Munich (DE)
- Institut für Humangenetik (DE)
- University of Turku (FI)
- Duke University (US)
- National Research Council (IT)
- The University of Western Australia (AU)
- University College London (GB)
- Imperial College London (GB)
- The University of Sydney (AU)
- Case Western Reserve University (US)
- Netherlands Institute for Neuroscience (NL)
- University of Edinburgh (GB)
- Institute of Genetics and Cancer (GB)
- Princess Alexandra Eye Pavilion (GB)
- Universität Hamburg (DE)
- The University of Melbourne (AU)
- University of Pennsylvania (US)
- Corresponding author
- Klaver, Caroline C
- ORCID
- Verhoeven, Virginie J M
- Hysi, Pirro G
- Wojciechowski, Robert
- Fan, Qiao
- Guggenheim, Jeremy A
- Höhn, René
- MacGregor, Stuart
- Hewitt, Alex W
- Nag, Abhishek
- Cheng, Ching-Yu
- Zhou, Xin
- Ikram, M Kamran
- Buitendijk, Gabriëlle H S
- Kemp, John P
- Simpson, Claire L
- Mäkelä, Kari-Matti
- Lehtimäki, Terho
- Kähönen, Mika
- Paterson, Andrew D
- Hosseini, S Mohsen
- Xu, Liang
- Jonas, Jost B
- Pärssinen, Olavi
- Wedenoja, Juho
- Yip, Shea Ping
- Ho, Daniel W H
- Pang, Chi Pui
- Chen, Li Jia
- Burdon, Kathryn P
- Craig, Jamie E
- Klein, Barbara E K
- Klein, Ronald
- Haller, Toomas
- Metspalu, Andres
- Khor, Chiea-Chuen
- Tai, E-Shyong
- Aung, Tin
- Vithana, Eranga
- Barathi, Veluchamy A
- Chen, Peng
- Li, Ruoying
- Liao, Jiemin
- Ong, Rick T
- Evans, David M
- Timpson, Nicholas J
- Verkerk, Annemieke J M H
- Meitinger, Thomas
- Raitakari, Olli
- Spector, Tim D
- Karssen, Lennart C
- Murgia, Federico
- Mishra, Aniket
- Montgomery, Grant W
- Pennell, Craig E
- Wang, Jie Jin
- Janmahasatian, Sarayut
- Chew, Emily
- Iyengar, Sudha K
- Gorgels, Theo G M F
- Rudan, Igor
- Hayward, Caroline
- Vatavuk, Zoran
- Wilson, James F
- Fleck, Brian
- Zeller, Tanja
- Mirshahi, Alireza
- Müller, Christian
- Uitterlinden, André G
- Rivadeneira, Fernando
- Vingerling, Johannes R
- Amin, Najaf
- Bergen, Arthur A B
- Teo, Yik-Ying
- Rahi, Jugnoo S
- Williams, Cathy
- Baird, Paul N
- Wong, Tien-Yin
- Oexle, Konrad
- Pfeiffer, Norbert
- Mackey, David A
- Young, Terri L
- Saw, Seang-Mei
- Klaver, Caroline C
- Hammond, Christopher J
- Venue
- Nature Genetics
- Published
- 2013-02-10
- Volume
- 45
- Issue
- 3
- Pages
- 314-318
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3740568
- OpenAlex
- W2136376873
- Cited by
- 487
- References
- 55
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- FWCI
- 35.22
- Type
- journal article
- Language
- en
- Update notices
- erratum (2013-05-29)
- Open access
- bronze
- doi.org
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Jyväskylä University Digital Archive (University of Jyväskylä) (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- eCite Digital Repository (University of Tasmania) (submittedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- National University of Singapore (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- CLOK (University of Central Lancashire) (submittedVersion)
- Flinders Academic Commons (Flinders University) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- PolyU Institutional Research Archive (Hong Kong Polytechnic University) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Site cant be reached (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- KNAW research portal (Royal Academy of Art and Sciences (KNAW)) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Explore Bristol Research (submittedVersion)
- Funders
- Wellcome Trust (076467, 08547508Z, 092731, WT083431MA, 090532, 085475/B/08/Z, 083478, 076113)
- National Institute for Health and Care Research (CDF-2009-02-35, SRF/01/010)
- National Institutes of Health (UL1TR000041, n01ey092109-001, UL1TR001449, n01dk062204-003, n01hc25195-41-0-1, n02hl64278-6-0-0)
- National Heart, Lung, and Blood Institute (N01‐HC25195, N02- HL-64278)
- National Eye Institute (R01EY023196, R01EY018246, K08EY022943, R01EY03083, R01EY16482, N01-EY-2-2112, R01EY003083, EY-016379, N01 EY 92109, R01EY016379, R01EY020483, R01EY016482, R21EY015145, P30 EY-11373, P30EY011373, P30EY014800)
- National Institute of Diabetes and Digestive and Kidney Diseases (N01 DK062204, N01‐DK‐6‐2204, R01DK077510)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Epidemiology › Ophthalmology and Visual Impairment Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Ocular Disorders and Treatments
- Keywords
- refractive error, myopia, genetic susceptibility loci, genome-wide association study, European ancestry, Asian ancestry, GRIA4, KCNQ5, RDH5, LAMA2, BMP-2, SIX6, GJD2, RASGRF1, risk score, eye development, retinoic acid metabolism, extracellular matrix remodeling, neurotransmission
- MeSH terms
- Alcohol Oxidoreductases, Humans, Laminin, Myopia, Refractive Errors, Risk Factors, Trans-Activators, Receptors, AMPA, Homeodomain Proteins, Genetic Predisposition to Disease, White People, Asian People, KCNQ Potassium Channels, Genome-Wide Association Study, Bone Morphogenetic Protein 2, Serine Proteases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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