Article
Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population.
Cell reports - 30 May 2023
Su Jianzhong, Yuan Jian, Xu Liangde, Xing Shilai, Sun Mengru, Yao Yinghao, Ma Yunlong, Chen Fukun, Jiang Longda, Li Kai, Yu Xiangyi, Xue Zhengbo, Zhang Yaru, Fan Dandan, Zhang Ji, Liu Hui, Liu Xinting, Zhang Guosi, Wang Hong, Zhou Meng, Lyu Fan, An Gang, Yu Xiaoguang, Xue Yuanchao, Yang Jian, Qu Jia
Abstract excerpt
High myopia (HM) is one of the leading causes of visual impairment and blindness worldwide. Here, we report a whole-exome sequencing (WES) study in 9,613 HM cases and 9,606 controls of Han Chinese ancestry to pinpoint HM-associated risk variants. Single-variant association analysis identified three newly identified -genetic loci associated with HM, including an East Asian ancestry-specific low-frequency variant...
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