IR@PKUHSC  > 北京大学第二临床医学院  > 眼科
学科主题临床医学
Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations
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
2015-04-01
DOI10.1038/ncomms7687
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
WOS记录号WOS:000353698500001
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
资助机构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
引用统计
被引频次:12[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61628
专题北京大学第二临床医学院_眼科
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
推荐引用方式
GB/T 7714
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.
APA Huang, Lv-Zhen.,Li, Ying-Jie.,Xie, Xue-Feng.,Zhang, Jing-Jing.,Cheng, Ching-Yu.,...&Li, Xiao-Xin.(2015).Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations.NATURE COMMUNICATIONS,6.
MLA Huang, Lv-Zhen,et al."Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations".NATURE COMMUNICATIONS 6(2015).
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Huang, Lv-Zhen]的文章
[Li, Ying-Jie]的文章
[Xie, Xue-Feng]的文章
百度学术
百度学术中相似的文章
[Huang, Lv-Zhen]的文章
[Li, Ying-Jie]的文章
[Xie, Xue-Feng]的文章
必应学术
必应学术中相似的文章
[Huang, Lv-Zhen]的文章
[Li, Ying-Jie]的文章
[Xie, Xue-Feng]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。