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学科主题: 临床医学
题名:
Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations
作者: Huang, Lv-Zhen1,2,3; Li, Ying-Jie4; Xie, Xue-Feng5; Zhang, Jing-Jing1,2,3; Cheng, Ching-Yu6,7,9,10; Yamashiro, Kenji11; Chen, Li-Jia12; Ma, Xiao-Yun13; Cheung, Chui Ming G.6,10; Wang, Yu-Sheng10,14; Zhang, Chun-Fang8,15; Bai, Yu-Jing1,2,3; Hou, Jing1,2,3; Chen, Xiao-Li1,2,3; Qi, Yun1,2,3; Li, Shan-Shan1,2,3; Sun, Yao-Yao1,2,3; Mei, Jun-Pu6; Cheng, Yong1,2; Yu, Wen-Zhen1,2,3; Hu, Xiong-Bing3,16; Zhuang, Feng-Feng16; Fan, Lei17; Lu, Yi17,18; Sun, Xing-Huai17,18; Zhu, Xiang-Jia17,18; Shen, De-Fen19; Chan, Chi-Chao19; Zhao, Ming-Wei1,2,3; Yoshimura, Nagahisa11; Pang, Chi Pui12; Wong, Tien Yin6,7,8,9,10; Khor, Chiea Chuen1,20,21,22; Zhang, Kang23,24,25; Zhou, Peng17,18,26; Li, Xiao-Xin1,2,3
刊名: NATURE COMMUNICATIONS
发表日期: 2015-04-01
DOI: 10.1038/ncomms7687
卷: 6
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: GENOME-WIDE ASSOCIATION ; UBIQUITIN-PROTEASOME-SYSTEM ; ALZHEIMERS-DISEASE ; CONJUGATION ; EXPRESSION ; GENES ; LOCI ; EYE
英文摘要:

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 population. Here we show strong evidence of an association at a novel, missense SNV, rs7739323, which is located in the ubiquitin protein ligase E3D (UBE3D) gene (P-meta = 1.46 x 10(-9), odds ratio (OR) = 0.74, 95% confidence interval (CI): 0.63-0.88). Furthermore, ablation of the UBE3D protein lead to an abnormal amount of pigment granules deposited in retinal pigment epithelium microvilli area and an abnormal response on electroretinography (ERG) in UBE3D(+/-) heterozygous mice. Our findings indicate that the ubiquitin-proteasome system may play a role in the pathogenesis of neovascular AMD.

语种: 英语
所属项目编号: 2011CB510200 ; 81200669 ; 81100666 ; 81102003 ; 81270989 ; 81100653 ; Z121100005312006 ; 20120071120089 ; 0796/2003 ; IRG07nov013 ; IRG09nov014 ; NMRC 1176/2008 ; NIG/1003/2009 ; STaR/0003/2008 ; CG/SERI/2010 ; CSA/033/2012 ; BMRC 08/1/35/19/550 ; 09/1/35/19/616 ; 10/1/35/19/671 ; M2011068 ; CSA/033/2012
项目资助者: National Basic Research Program of China (973 Program) ; National Natural Science Foundation of China ; Research Fund for Science and Technology Program of Beijing ; Doctoral Program of Higher Education of China ; Zhuo-Xue Project of Fudan University ; National Medical Research Council (NMRC) ; Biomedical Research Council in Singapore ; BrightFocus Foundation, USA ; NMRC, Singapore
WOS记录号: WOS:000353698500001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61628
Appears in Collections:北京大学第二临床医学院_眼科_期刊论文

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作者单位: 1.Singapore Eye Res Inst, Singapore 169856, Singapore
2.BGI Shenzhen, Shenzhen 518083, Peoples R China
3.Minist Educ China, Key Lab Vis Loss & Restorat, Beijing 100044, Peoples R China
4.Peking Univ, Peoples Hosp, Dept Ophthalmol, Beijing 100044, Peoples R China
5.Beijing Key Lab Diag & Therapy Retinal & Choroid, Beijing 100044, Peoples R China
6.Chinese Acad Med Sci, Peking Union Med Coll, Canc Inst & Hosp, Dept Abdominal Surg Oncol, Beijing 100021, Peoples R China
7.Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore
8.Natl Univ Singapore, Dept Ophthalmol, Singapore 119228, Singapore
9.Natl Univ Hlth Syst, Singapore 119228, Singapore
10.Singapore Natl Eye Ctr, Singapore 168751, Singapore
11.Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto 6068507, Japan
12.Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Hong Kong 999077, Hong Kong, Peoples R China
13.Guanghua Integrat Med Hosp, Dept Ophthalmol, Shanghai 200052, Peoples R China
14.Fourth Mil Med Univ, Xijing Hosp, Dept Ophthalmol, Xian 710032, Peoples R China
15.Peking Univ, Peoples Hosp, Dept Clin Epidemiol, Beijing 100044, Peoples R China
16.Beijing View Solid Biotechnol, Beijing 100034, Peoples R China
17.Fudan Univ, Shanghai Med Coll, Shanghai 200032, Peoples R China
18.Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, Shanghai 200433, Peoples R China
19.NEI, NIH, Bethesda, MD 20892 USA
20.Genome Inst Singapore, Div Human Genet, Singapore 138672, Singapore
21.Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117549, Singapore
22.Natl Univ Hlth Syst, Singapore 117549, Singapore
23.Inst Genom Med, La Jolla, CA 92093 USA
24.Shiley Eye Ctr, La Jolla, CA 92093 USA
25.Pkwy Hlth Hongqiao Med Ctr, Shanghai 201101, Peoples R China
26.Univ Calif San Diego, La Jolla, CA 92093 USA

Recommended Citation:
Huang, Lv-Zhen,Li, Ying-Jie,Xie, Xue-Feng,et al. Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations[J]. NATURE COMMUNICATIONS,2015,6.
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