A1 Journal article (refereed)
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error (2020)

Fan, Q., Pozarickij, A., Tan, N. Y. Q., Guo, X., Verhoeven, V. J. M., Vitart, V., Guggenheim, J. A., Miyake, M., Tideman, J. W. L., Khawaja, A. P., Zhang, L., MacGregor, S., Höhn, R., Chen, P., Biino, G., Wedenoja, J., Saffari, S. E., Tedja, M. S., Xie, J., . . . Cheng, C.-Y. (2020). Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. Communications Biology, 3, Article 133. https://doi.org/10.1038/s42003-020-0802-y

JYU authors or editors

Publication details

All authors or editors: Fan, Qiao; Pozarickij, Alfred; Tan, Nicholas Y. Q.; Guo, Xiaobo; Verhoeven, Virginie J. M.; Vitart, Veronique; Guggenheim, Jeremy A.; Miyake, Masahiro; Tideman, J. Willem L.; Khawaja, Anthony P.; et al.

Journal or series: Communications Biology

eISSN: 2399-3642

Publication year: 2020

Volume: 3

Article number: 133

Publisher: Nature Publishing Group

Publication country: United Kingdom

Publication language: English

DOI: https://doi.org/10.1038/s42003-020-0802-y

Publication open access: Openly available

Publication channel open access: Open Access channel

Publication is parallel published (JYX): https://jyx.jyu.fi/handle/123456789/68379

Abstract

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.

Keywords: myopia; genetic factors

Contributing organizations

Ministry reporting: Yes

Reporting Year: 2020

JUFO rating: 1