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

Qiao Fan (Lead / Corresponding author), Alfred Pozarickij, Nicholas Y. Q. Tan, Xiaobo Guo, Virginie J. M. Verhoeven, Veronique Vitart, Jeremy A. Guggenheim, Masahiro Miyake, J. Willem L. Tideman, Anthony P. Khawaja, Liang Zhang, Stuart MacGregor, René Höhn, Peng Chen, Ginevra Biino, Juho Wedenoja, Seyed Ehsan Saffari, Milly S. Tedja, Jing Xie, Carla LancaYa Xing Wang, Srujana Sahebjada, Johanna Mazur, Alireza Mirshahi, Nicholas G. Martin, Seyhan Yazar, Craig E. Pennell, Maurice Yap, Annechien E. G. Haarman, Clair A. Enthoven, Jan Roelof Polling, , UK Biobank Eye and Vision Consortium, Alex W. Hewitt, Vincent W. V. Jaddoe, Cornelia M. van Duijn, Caroline Hayward, Ozren Polašek, E. Shyong Tai, Hosoda Yoshikatsu, Pirro G. Hysi, Terri L. Young, Akitaka Tsujikawa, Jie Jing Wang, Paul Mitchell, Norbert Pfeiffer, Olavi Pärssinen, Paul J. Foster, Maurizio Fossarello, Shea Ping Yip, Cathy Williams, Christopher J. Hammond, Jost B. Jonas, Mingguang He, David A. Mackey, Tien-Yin Wong, Caroline C. W. Klaver, Seang-Mei Saw, Paul N. Baird, Ching-Yu Cheng (Lead / Corresponding author)

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20 Citations (Scopus)
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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.

Original languageEnglish
Article number133
Pages (from-to)1-14
Number of pages14
JournalCommunications Biology
Issue number1
Early online date19 Mar 2020
Publication statusPublished - Dec 2020


  • Corneal diseases
  • Genetic predisposition to disease
  • Genome-wide association studies

ASJC Scopus subject areas

  • General Biochemistry,Genetics and Molecular Biology
  • General Agricultural and Biological Sciences
  • Medicine (miscellaneous)


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