Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Published on Mar 19, 2020
· DOI :10.1038/S42003-020-0802-Y
Qiao Fan24
Estimated H-index: 24
(NUS: National University of Singapore),
Alfred Pozarickij1
Estimated H-index: 1
(Cardiff University)
+ 55 AuthorsAnthony P. Khawaja18
Estimated H-index: 18
(University of Cambridge)
Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia. Qiao Fan et al. report a genome-wide association analysis of corneal curvature—an important measurement for identifying vision problems, such as myopia—in more than 45,000 individuals of either European or Asian ancestry. They identify 47 loci, 26 of which are novel, with some showing population-specific effects and pleiotropic effects on eye elongation and myopia.
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  • Citations (1)
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