Journal article

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

Xiaotong Han, Tianzi Liu, Xiaohu Ding, Jialin Liu, Xingyan Lin, Decai Wang, Moeen Riaz, Paul N Baird, Zhi Xie, Yuan Cheng, Yi Li, Yuki Mori, Masahiro Miyake, Hengtong Li, Ching-Yu Cheng, Changqing Zeng, Kyoko Ohno-Matsui, Xiangtian Zhou, Fan Liu, Mingguang He

J Genet Genomics | Published : 2021


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 0D) and Wenzhou (593 -1.75 D), 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 3.34% ..

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