Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations.

doi:10.1038/ncomms7687

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Article

Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations.

Nature communications - 15 Apr 2015

Huang Lv-Zhen, Li Ying-Jie, Xie Xue-Feng, Zhang Jing-Jing, Cheng Ching-Yu, Yamashiro Kenji, Chen Li-Jia, Ma Xiao-Yun, Cheung Chui Ming G, Wang Yu-Sheng, Zhang Chun-Fang, Bai Yu-Jing, Hou Jing, Chen Xiao-Li, Qi Yun, Li Shan-Shan, Sun Yao-Yao, Mei Jun-Pu, Cheng Yong, Yu Wen-Zhen, Hu Xiong-Bing, Zhuang Feng-Feng, Fan Lei, Lu Yi, Sun Xing-Huai, Zhu Xiang-Jia, Shen De-Fen, Chan Chi-Chao, Zhao Ming-Wei, Yoshimura Nagahisa, Pang Chi Pui, Wong Tien Yin, Khor Chiea Chuen, Zhang Kang, Zhou Peng, Li Xiao-Xin

Abstract excerpt

Age-related macular degeneration (AMD) is a leading cause of irreversible central blindness among the elderly worldwide. We use exome sequencing to analyse nonsynonymous single-nucleotide variants (SNVs) across the whole genome of 216 neovascular AMD cases and 1,553 controls. As a follow-up validation, we evaluate 3,772 neovascular AMD cases and 6,942 controls from five independent cohorts in the East Asian...

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PMID: 25872646
DOI: 10.1038/ncomms7687

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