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学科主题: 临床医学
题名:
rs4711751 and rs1999930 Are Not Associated with Neovascular Age-Related Macular Degeneration or Polypoidal Choroidal Vasculopathy in the Chinese Population
作者: Huang, Lvzhen1,2,3; Li, Mingwu1,2,3; Ma, Xiaoyun6,7; Li, Yingjie4; Zhang, Chunfang5; Sun, Yaoyao1,2,3; Bai, Yujing1,2,3; Wang, Bin1,2,3; Yu, Wenzhen1,2,3; Zhao, Mingwei1,2,3; Khor, Chiea Chuen8; Li, Xiaoxin1,2,3
关键词: Age-related macular degeneration ; Polypoidal choroidal vasculopathy ; Gene polymorphism ; rs1999930 ; rs4711751
刊名: OPHTHALMIC RESEARCH
发表日期: 2014
DOI: 10.1159/000362763
卷: 52, 期:2, 页:102-106
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Ophthalmology
研究领域[WOS]: Ophthalmology
关键词[WOS]: VARIANTS ; POLYMORPHISMS
英文摘要:

Purpose: rs1999930 and rs4711751 have recently been identified as novel variants associated with advanced age-related macular degeneration (AMD) in populations of European ancestry. We aimed to investigate whether these two single nucleotide polymorphisms (SNPs) were associated with neovascular AMD (nAMD) or with polypoidal choroidal vasculopathy (PCV), a variant of AMD in Asians, using a Chinese case-control study. Methods: A total of 900 subjects, including 300 controls, 300 cases with nAMD and 300 cases with PCV, were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs1999930 and rs4711751 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between cases and controls were tested by a. 2 test, with additional adjustments for age and gender using logistic regression. The statistical power was also calculated. Values of p < 0.05 were considered statistically significant. Results: No statistically significant association was observed between the two polymorphisms of nAMD or PCV phenotype (p > 0.05 for all comparisons). The difference remained insignificant after correction for age and gender (p > 0.05 for all comparisons). The statistical powers to detect the association between these two SNPs and nAMD or PCV range from 0.05 to 0.36, assuming conventional levels of statistical significance. Conclusions: In the present study, we could not replicate the reported association of these two SNPs and either nAMD or PCV in a Chinese population, suggesting that they are unlikely to be a major AMD and PCV susceptibility gene locus in the Chinese population. Considering the low power value, a large sample size is required to draw more reliable conclusions. (C) 2014 S. Karger AG, Basel

语种: 英语
所属项目编号: 2011CB510200 ; 81100666 ; Z121100005312006
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
WOS记录号: WOS:000342206900008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64246
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.Guanghua Integrat Med Hosp, Shanghai, Peoples R China
2.Peking Univ, Peoples Hosp, Dept Ophthalmol, Beijing 100044, Peoples R China
3.Peking Union Med Coll, Chinese Acad Med Sci, Canc Inst & Hosp, Key Lab Vis Loss & Restorat,Minist Educ, Beijing 100021, Peoples R China
4.Peking Union Med Coll, Chinese Acad Med Sci, Canc Inst & Hosp, Beijing Key Lab Diag & Therapy Retinal & Choroid, Beijing 100021, Peoples R China
5.Peking Union Med Coll, Chinese Acad Med Sci, Canc Inst & Hosp, Dept Abdominal Surg Oncol, Beijing 100021, Peoples R China
6.Peking Univ, Peoples Hosp, Dept Clin Epidemiol, Beijing 100044, Peoples R China
7.Shanghai Acad Chinese Med Sci, Inst Arthrit Res, Shanghai, Peoples R China
8.Natl Univ Singapore, Singapore Eye Res Inst, Singapore 117548, Singapore

Recommended Citation:
Huang, Lvzhen,Li, Mingwu,Ma, Xiaoyun,et al. rs4711751 and rs1999930 Are Not Associated with Neovascular Age-Related Macular Degeneration or Polypoidal Choroidal Vasculopathy in the Chinese Population[J]. OPHTHALMIC RESEARCH,2014,52(2):102-106.
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