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学科主题: 临床医学
题名:
Genetic and Functional Dissection of ARMS2 in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy
作者: Cheng, Yong1,2; Huang, LvZhen1,2; Li, Xiaoxin1,2; Zhou, Peng3; Zeng, Wotan4; Zhang, ChunFang5
刊名: PLOS ONE
发表日期: 2013-01-09
DOI: 10.1371/journal.pone.0053665
卷: 8, 期:1
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]: COMPLEMENT FACTOR-H ; MESSENGER-RNA EXPRESSION ; BEAVER DAM EYE ; EXTENDED FAMILIES ; CHROMOSOME 10Q26 ; GENOMEWIDE-SCAN ; JAPANESE POPULATION ; SUSCEPTIBILITY LOCI ; VISUAL IMPAIRMENT ; LINKAGE ANALYSIS
英文摘要:

Age-related maculopathy susceptibility 2(ARMS2) was suggested to be associated with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in multiple genetic studies in Caucasians and Japanese. To date, no biological properties have been attributed to the putative protein in nAMD and PCV. The complete genes of ARMS2 and HTRA1 including all exons and the promoter region were assessed using direct sequencing technology in 284 unrelated mainland northern Chinese individuals: 96 nAMD patients, 92 PCV patients and 96 controls. Significant associations with both nAMD and PCV were observed in 2 polymorphisms of ARMS2 and HTRA1 rs11200638, with different genotypic distributions between nAMD and PCV (p<0.001). After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with nAMD and PCV (p<0.001). Then we overexpressed wild-type ARMS2 and ARMS2 A69S mutation (rs10490924) in RF/6A cells and RPE cells as in vitro study model. Cell proliferation, attachment, migration and tube formation were analyzed for the first time. Compare with wild-type ARMS2, A69S mutation resulted in a significant increase in proliferation and attachment but inhibited cell migration. Moreover, neither wild-type ARMS2 nor A69S mutation affected tube formation of RF/6A cells. There is a strong and consistent association of the ARMS2/HTRA1 locus with both nAMD and PCV, suggesting the two disorders share, at least partially, similar molecular mechanisms. Neither wild-type ARMS2 nor A69S mutation had direct association with neovascularisation in the pathogenesis of AMD.

语种: 英语
所属项目编号: 2011CB510200
项目资助者: National Basic Research Program of China (973 Program)
WOS记录号: WOS:000313551500090
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57391
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.Minist Educ, Key Lab Vis Loss & Restorat, Beijing, Peoples R China
2.Chinese Natl Human Genome Ctr, Beijing, Peoples R China
3.Peking Univ, Peoples Hosp, Dept Ophthalmol, Beijing 100871, Peoples R China
4.Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, Shanghai 200433, Peoples R China
5.Peking Univ, Peoples Hosp, Dept Clin Epidemiol, Beijing 100871, Peoples R China

Recommended Citation:
Cheng, Yong,Huang, LvZhen,Li, Xiaoxin,et al. Genetic and Functional Dissection of ARMS2 in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy[J]. PLOS ONE,2013,8(1).
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