Article
A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.
Nature genetics - 1 Jun 2016
Huang Lulin, Zhang Houbin, Cheng Ching-Yu, Wen Feng, Tam Pancy O S, Zhao Peiquan, Chen Haoyu, Li Zheng, Chen Lijia, Tai Zhengfu, Yamashiro Kenji, Deng Shaoping, Zhu Xianjun, Chen Weiqi, Cai Li, Lu Fang, Li Yuanfeng, Cheung Chui-Ming G, Shi Yi, Miyake Masahiro, Lin Yin, Gong Bo, Liu Xiaoqi, Sim Kar-Seng, Yang Jiyun, Mori Keisuke, Zhang Xiongzhe, Cackett Peter D, Tsujikawa Motokazu, Nishida Kohji, Hao Fang, Ma Shi, Lin He, Cheng Jing, Fei Ping, Lai Timothy Y Y, Tang Sibo, Laude Augustinus, Inoue Satoshi, Yeo Ian Y, Sakurada Yoichi, Zhou Yu, Iijima Hiroyuki, Honda Shigeru, Lei Chuntao, Zhang Lin, Zheng Hong, Jiang Dan, Zhu Xiong, Wong Tien-Ying, Khor Chiea-Chuen, Pang Chi-Pui, Yoshimura Nagahisa, Yang Zhenglin
Abstract excerpt
Polypoidal choroidal vasculopathy (PCV), a subtype of 'wet' age-related macular degeneration (AMD), constitutes up to 55% of cases of wet AMD in Asian patients. In contrast to the choroidal neovascularization (CNV) subtype, the genetic risk factors for PCV are relatively unknown. Exome sequencing analysis of a Han Chinese cohort followed by replication in four independent cohorts identified a rare c.986A>G...
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