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


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Fan, Q, Pozarickij, A, Tan, NYQ, Guo, X, Verhoeven, VJM, Vitart, V, Guggenheim, JA, Miyake, M, Tideman, JWL, Khawaja, AP, Zhang, L, MacGregor, S, Hohn, R, Chen, P, Biino, G, Wedenoja, J, Saffari, SE, Tedja, MS, Xie, J, Lanca, C, Wang, YX, Sahebjada, S, Mazur, J, Mirshahi, A, Martin, NG, Yazar, S, Pennell, CE, Yap, M, Haarman, AEG, Enthoven, CA, Polling, JR, Hewitt, AW ORCID: 0000-0002-5123-5999, Jaddoe, VWV, van Duijn, CM, Hayward, C, Polasek, O, Tai, E-S, Yoshikatsu, H, Hysi, PG, Young, TL, Tsujikawa, A, Wang, JJ, Mitchell, P, Pfeiffer, N, Parssinen, O, Foster, PJ, Fossarello, M, Yip, SP, Williams, C, Hammond, CJ, Jonas, JB, He, M, Mackey, DA, Wong, T-Y, Klaver, CCW, Saw, S-M, Baird, PN and 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, vol. 3, no. 1 , pp. 1-14 , doi: 10.1038/s42003-020-0802-y.

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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.

Item Type: Article
Authors/Creators:Fan, Q and Pozarickij, A and Tan, NYQ and Guo, X and Verhoeven, VJM and Vitart, V and Guggenheim, JA and Miyake, M and Tideman, JWL and Khawaja, AP and Zhang, L and MacGregor, S and Hohn, R and Chen, P and Biino, G and Wedenoja, J and Saffari, SE and Tedja, MS and Xie, J and Lanca, C and Wang, YX and Sahebjada, S and Mazur, J and Mirshahi, A and Martin, NG and Yazar, S and Pennell, CE and Yap, M and Haarman, AEG and Enthoven, CA and Polling, JR and Hewitt, AW and Jaddoe, VWV and van Duijn, CM and Hayward, C and Polasek, O and Tai, E-S and Yoshikatsu, H and Hysi, PG and Young, TL and Tsujikawa, A and Wang, JJ and Mitchell, P and Pfeiffer, N and Parssinen, O and Foster, PJ and Fossarello, M and Yip, SP and Williams, C and Hammond, CJ and Jonas, JB and He, M and Mackey, DA and Wong, T-Y and Klaver, CCW and Saw, S-M and Baird, PN and Cheng, C-Y
Journal or Publication Title: Communications Biology
Publisher: Nature Publishing Group
ISSN: 2399-3642
DOI / ID Number: 10.1038/s42003-020-0802-y
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Copyright 2020 The Authors. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

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