期刊
NATURE GENETICS
卷 52, 期 4, 页码 401-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-020-0599-0
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资金
- National Institute for Health Research (NIHR)
- Moorfields Eye Hospital NHS Foundation Trust
- UCL Institute of Ophthalmology
- UK NIHR [BRC3_026]
- Moorfields Eye Charity [ST 15 11 E]
- Fight for Sight [1507/1508]
- Macular Society
- International Glaucoma Association (IGA, Ashford UK)
- Alcon Research Institute
- UK Medical Research Council (MRC) [MC_UU_00007/10]
- US National Institute on Aging
- National Institute of Mental Health
- National Institute of Health Common Fund [RC2 AG036607]
- National Eye Institute [NEI R01 EY027004, R01EY020483]
- National Institute of Diabetes and Digestive and Kidney Diseases [R01 DK116738]
- European Research Council (ERC) under the European Union's Horizon 2020 Research and Innovation Programme [648268]
- Netherlands Organisation for Scientific Research (NWO) [91815655, 91617076]
- National Health and Medical Research Council (NHMRC) of Australia [1150144, 1116360, 1154543, 1121979]
- MRC [G1000143, MC_PC_13048]
- Cancer Research UK [C864/A14136]
- Moorfields Eye Charity grant
- Richard Desmond Charitable Trust
- National Institute for Health Research
- Biomedical Research Centre for Ophthalmology
- National Eye Institute of the National Institutes of Health [R21EY029309]
- Fight for Sight PhD studentship
- FfS ECI fellowship
- TFC Frost Charitable Trust
- UK Biobank [669, 17615]
- NIHR Biomedical Research Centres at Moorfields Eye Hospital
- UCL Institute of Ophthalmology, and at the UCL Institute of Child Health and Great Ormond Street Hospital
- NIHR Senior Investigator
- Ulverscroft Foundation
- Wellcome Trust [206619_Z_17_Z]
- NIHR Biomedical Research Centre at Moorfields Eye Hospital
- MRC [MR/N003284/1, MC_UU_12015/1, MC_UU_00007/10] Funding Source: UKRI
- National Health and Medical Research Council of Australia [1154543] Funding Source: NHMRC
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [ZIAHG200327] Funding Source: NIH RePORTER
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. Meta-analysis of genome-wide association studies of 542,934 individuals identifies 336 novel loci associated with refractive error and implicates eye development, circadian rhythm and pigmentation pathways in controlling myopia.
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