Eye and Vision • Vol 12 • No 1
Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population
January 2025 • Yinghao Yao, Xingyong Li, Wu Lan, Jia Zhang, Yuanyuan Gui, Xiangyi Yu, Yang Zhou, Xuefei Li, xinyu liu, Shilai Xing, Gang An, Zhenlin Du, Hui Liu, Sh…
Abstract Background Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown. This study was conducted to identify novel genetic variants linked to KC and to evaluate the potential applicability of a polygenic risk model in the Han Chinese population. Methods A total of 830 individuals diagnosed with KC and 779 controls from a Chinese cohort w…