Qiao Fan, Hengtong Li, Xiaomeng Wang, Yih-Chung Tham, Kelvin Yi Chong Teo, Masayuki Yasuda, Weng Khong Lim, Yuet Ping Kwan, Jing Xian Teo, Ching-Jou Chen, Li Jia Chen, Jeeyun Ahn, Sonia Davila, Masahiro Miyake, Patrick Tan, Kyu Hyung Park, Chi Pui Pang, Chiea Chuan Khor, Tien Yin Wong, Yasuo Yanagi, Chui Ming Gemmy Cheung, Ching-Yu Cheng
Neovascular age-related macular degeneration (nAMD), along with its clinical subtype known as polypoidal choroidal vasculopathy (PCV), are among the leading causes of vision loss in elderly Asians. In a genome-wide association study (GWAS) comprising 3,128 nAMD (1,555 PCV and 1,573 typical nAMD), and 5,493 controls of East Asian ancestry, we identify twelve loci, of which four are novel ([Formula: see text]). Substantial genetic sharing between PCV and typical nAMD is noted (rg = 0.666), whereas collagen extracellular matrix and fibrosis-related pathways are more pronounced for PCV...
September 11, 2023: Nature Communications