Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population
Jianzhong Su, Jian Yuan, Liangde Xu, Shilai Xing, Mengru Sun, Yinghao Yao, Yunlong Ma, Fukun Chen, Longda Jiang, Kai Li, Xiangyi Yu, Zhengbo Xue, Yaru Zhang, Dandan Fan, Ji Zhang, , Jia Qu
This study identifies low-frequency variants in FKBP5 and FOLH1 associated with high myopia in Han Chinese and European populations through whole-exome sequencing and functional experiments.
Cell Reports · May 1, 2023Peer-reviewedGenetic & Genomic Medicine