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学科主题临床医学
Genetic and Functional Dissection of ARMS2 in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy
Cheng, Yong1,2; Huang, LvZhen1,2; Li, Xiaoxin1,2; Zhou, Peng3; Zeng, Wotan4; Zhang, ChunFang5
刊名PLOS ONE
2013-01-09
DOI10.1371/journal.pone.0053665
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
WOS记录号WOS:000313551500090
项目编号2011CB510200
资助机构National Basic Research Program of China (973 Program)
引用统计
被引频次:19[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/400002259/57391
专题北京大学第二临床医学院_眼科
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
推荐引用方式
GB/T 7714
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).
APA Cheng, Yong,Huang, LvZhen,Li, Xiaoxin,Zhou, Peng,Zeng, Wotan,&Zhang, ChunFang.(2013).Genetic and Functional Dissection of ARMS2 in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy.PLOS ONE,8(1).
MLA Cheng, Yong,et al."Genetic and Functional Dissection of ARMS2 in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy".PLOS ONE 8.1(2013).
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