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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

Lookup NU author(s): Professor David SteelORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2020, The Author(s). 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.

Publication metadata

Author(s): 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, Bailey-Wilson JE, Veluchamy AB, Burdon KP, Campbell H, Chen LJ, Chew EY, Craig JE, Cumberland PM, Deangelis MM, Delcourt C, Ding X, Evans DM, Gharahkhani P, Iglesias AI, Haller T, Han X, Hoang Q, Igo RP, Iyengar SK, Kahonen M, Kaprio J, Klein BE, Klein R, Lass JH, Lee K, Lehtimaki T, Lewis DD, Li Q, Li S-M, Lyytikainen L-P, Meguro A, Metspalu A, Middlebrooks CD, Mizuki N, Musolf AM, Nickels S, Oexle K, Pang CP, Paterson AD, Rahi JS, Raitakari O, Rudan I, Stambolian D, Simpson CL, Wang N, Bin Wei W, Williams KM, Wilson JF, Wojciechowski R, Yamashiro K, Yam JCS, Zhou X, Aslam T, Barman SA, Barrett JH, Bishop P, Blows P, Bunce C, Carare RO, Chakravarthy U, Chan M, Chua SYL, Crabb DP, Cumberland PM, Day A, Desai P, Dhillon B, Dick AD, Egan C, Ennis S, Fruttiger M, Gallacher JEJ, Garway-Heath DF, Gibson J, Gore D, Hardcastle A, Harding SP, Hogg RE, Keane PA, Khaw SPT, Lascaratos G, Lotery AJ, Macgillivray T, Mackie S, Martin K, McGaughey M, McGuinness B, McKay GJ, McKibbin M, Mitry D, Moore T, Morgan JE, Muthy ZA, O'Sullivan E, Owen CG, Patel P, Paterson E, Peto T, Petzold A, Rahi JS, Rudnikca AR, Self J, Sivaprasad S, Steel D, Stratton I, Strouthidis N, Sudlow C, Thomas D, Trucco E, Tufail A, Vernon SA, Viswanathan AC, Williams K, Woodside JV, Yates MM, Yip J, Zheng Y, Hewitt AW, 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, Cheng C-Y

Publication type: Article

Publication status: Published

Journal: Communications Biology

Year: 2020

Volume: 3

Online publication date: 19/03/2020

Acceptance date: 24/01/2020

Date deposited: 09/07/2020

ISSN (electronic): 2399-3642

Publisher: Nature Research


DOI: 10.1038/s42003-020-0802-y


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