Rare variants in novel and known genes associated with primary angle closure glaucoma based on whole exome sequencing of 549 probands

作     者：Wenmin Sun Xueshan Xiao Shiqiang Li Jiamin Ouyang Xueqing Li Xiaoyun Jia Xing Liu Qingjiong Zhang Wenmin Sun;Xueshan Xiao;Shiqiang Li;Jiamin Ouyang;Xueqing Li;Xiaoyun Jia;Xing Liu;Qingjiong Zhang

作者机构：State Key Laboratory of Ophthalmology Zhongshan OphthalmicCenter Sun Yat-sen University 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2019年第46卷第7期

页      面：353-357页

核心收录：

学科分类：0710[理学-生物学] 10[医学] 

基　　金：supported by grants from the National Natural Science Foundation of China, China (81770965 and 30971588) the Science and Technology Planning Projects of Guangzhou, China (201607020013) the Fundamental Research Funds of the State Key Laboratory of Ophthalmology,China 

主　　题：irreversible blindness hyperopia 

摘      要：Primary angle closure glaucoma(PACG)is one of the most common causes of irreversible blindness in Asia and about 80%of PACG are present in Asia(Song et al.,2017).Genetics plays an important role in the development of PACG(Gramer et al.,2014).Recently,eight common SNPs were found to be strongly associated with PACG(Vithana et al.,2012;Khor et al.,2016)and mutations in MYRF cause high hyperopia accompanied with PACG(Xiao et al.,2019).