Identification of novel loci influencing refractive error in East Asian populations using an extreme phenotype design

X Han; T Liu; X Ding; J Liu; X Lin; D Wang; M Riaz; PN Baird; Z Xie; Y Cheng; Y Li; Y Mori; M Miyake; H Li; CY Cheng; C Zeng; K Ohno-Matsui; X Zhou; F Liu; M He

Journal article

Identification of novel loci influencing refractive error in East Asian populations using an extreme phenotype design

X Han, T Liu, X Ding, J Liu, X Lin, D Wang, M Riaz, PN Baird, Z Xie, Y Cheng, Y Li, Y Mori, M Miyake, H Li, CY Cheng, C Zeng, K Ohno-Matsui, X Zhou, F Liu, M He

Journal of Genetics and Genomics | SCIENCE PRESS | Published : 2022

DOI: 10.1016/j.jgg.2021.08.011

Abstract

The global “myopia boom” has raised significant international concerns. Despite a higher myopia prevalence in Asia, previous large-scale genome-wide association studies (GWASs) were mostly based on European descendants. Here, we report a GWAS of spherical equivalent (SE) in 1852 Chinese Han individuals with extreme SE from Guangzhou (631 0.00D) and Wenzhou (593 −1.75D), followed by a replication study in two independent cohorts with totaling 3538 East Asian individuals. The discovery GWAS and meta-analysis identify three novel loci, which show genome-wide significant associations with SE, including 1q25.2 FAM163A, 10p11.22 NRP1/PRAD3, and 10p11.21 ANKRD30A/MTRNR2L7, together explaining 3.3..

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University of Melbourne Researchers

Paul Baird Author

Grants

Awarded by Beijing Institute of Genomics, Chinese Academy of Sciences

Funding Acknowledgements

We thank the many thousands of people participating in this study and also thank Mr. Xingjian Gao from Beijing Institute of Genomics, Chinese Academy of Sciences for help with the statistical analysis. This work was supported by the Strategic Priority Research Program of Chinese Academy of Sciences (XDB38010400), National Key R&D Program of China (2018YFC0116500), Science and Technology Service Network Initiative of Chinese Academy of Sciences (KFJSTS-ZDTP-079), Science and Technology Planning Project of Guangdong Province (2013B20400003), the Fundamental Research Funds of the State Key Laboratory of Ophthalmology, and the Open Project of Key Laboratory of Genomic and Precision Medicine of the CAS. X.H. was supported by the China Scholarship Council (CSC) and China Postdoctoral Science Foundation (2019TQ0365). The sponsors or funding organizations had no role in the design or conduct of this research.