Article
Exploring the role of VAV2 rare variants in primary open-angle glaucoma: genetic insights and pathophysiological mechanisms.
Science China. Life sciences - 1 Jan 2026
Li Runze, Chen Yuhong, Zhang Shanshan, Ye Lin, Tian Huaping, Li Zheng, Wang Wentao, Li Hongjing, Liao Ruilin, Xu Haojue, Chuan Junlan, Qu Chao, Hao Fang, Jiang Dan, Zou Liang, Shi Yi, Yang Zhenglin, Huang Lulin
Abstract excerpt
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide, primarily due to the degeneration of retinal ganglion cells (RGCs). In this study, we reported vav guanine nucleotide exchange factor 2 (VAV2) as a POAG-associated gene. Through whole exome sequencing (WES) of 398 Han Chinese POAG patients and 2,010 controls, we discovered nine rare VAV2 variants linked to POAG...
Topics
Join the communities discussing this publication.