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Association of Genetic Polymorphisms and Age-Related Macular Degeneration in Chinese Population
Tian, Jun1; Yu, Wenzhen2,3; Qin, Xueying1; Fang, Kai1; Chen, Qing4; Hou, Jing2,3; Li, Juan5; Chen, Dafang1; Hu, Yonghua1; Li, Xiaoxin2,3
刊名INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2012-06-01
DOI10.1167/iovs.11-8542
53期:7页:4262-4269
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Ophthalmology
资助者Ministry of Science and Technology of the People&prime ; s Republic of China ; National Basic Research Program of China (973 Program) ; Ministry of Science and Technology of the People&prime ; s Republic of China ; National Basic Research Program of China (973 Program)
研究领域[WOS]Ophthalmology
关键词[WOS]ENDOTHELIAL GROWTH-FACTOR ; COMPLEMENT-FACTOR-H ; HTRA1 PROMOTER POLYMORPHISM ; NONCODING VARIANT ; INCREASES RISK ; SERPING1 GENE ; CFH ; C3 ; HAPLOTYPE ; SMOKING
英文摘要

PURPOSE. We explored associations between age-related macular degeneration (AMD) and genetic variants of 10 genes in a nationwide Chinese population.

METHODS. In this multicenter case-control study, 535 AMD patients and 469 controls were recruited from 16 centers that spread from the north to the south of China. All participants underwent comprehensive eye examinations, and 40 single nucleotide polymorphisms (SNPs) of 10 genes were selected. DNA samples were genotyped with the MassArray system. The effect of the genotypes and haplotypes on AMD was assessed with logistic regression analysis, adjusted for age, sex, long-term residence, and family origin.

RESULTS. In our study, 11 SNPs in complement H (CFH), 2 in age-related maculopathy susceptibility 2 (ARMS2), and 2 in high-temperature requirement factor A1 (HTRA1) were associated significantly with AMD. They were rs551397, rs800292, rs1329424, rs1061170, rs10801555, rs12124794, rs10733086, rs10737680, rs2274700, rs1410996, and rs380390 in CFH; rs10490924 and rs2736912 in ARMS2; and rs11200638 and rs3793917 in HTRA1. Three haplotypes in CFH, predisposed the patients significantly to AMD (P < 0.001, P = 0.001, and P < 0.001, respectively). With the sample size of our study, no relationship was found for AMD and the SNPs tested in complement 3 (C3); serpin peptidase inhibitor, clade G, member 1 (SERPING1); vascular endothelial growth factor (VEGF); cholesterol ester transfer protein (CETP); lipoprotein lipase (LPL); hepatic lipase (LIPC); and metallopeptidase inhibitor 3 (TIMP3) genes.

CONCLUSIONS. Gene variants in CFH, ARMS2, and HTRA1 contribute to AMD in the Chinese population. (Invest Ophthalmol Vis Sci. 2012;53:4262-4269) DOI:10.1167/iovs.11-8542

语种英语
所属项目编号2006BAI02B05 ; 2011CB510200
资助者Ministry of Science and Technology of the People&prime ; s Republic of China ; National Basic Research Program of China (973 Program) ; Ministry of Science and Technology of the People&prime ; s Republic of China ; National Basic Research Program of China (973 Program)
WOS记录号WOS:000306181200117
Citation statistics
Cited Times:36[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57926
Collection北京大学公共卫生学院
作者单位1.Peking Univ, Hlth Sci Ctr, Dept Epidemiol & Biostat, Sch Publ Hlth, Beijing 100191, Peoples R China
2.Peking Univ, Dept Ophthalmol, Peoples Hosp, Beijing 100044, Peoples R China
3.Minist Educ, Key Lab Vis Loss & Restorat, Beijing, Peoples R China
4.Third Mil Med Univ, Prevent Med Coll, Dept Hyg Toxicol, Chongqing, Peoples R China
5.Beijing Ctr Dis Control & Prevent, Beijing, Peoples R China
Recommended Citation
GB/T 7714
Tian, Jun,Yu, Wenzhen,Qin, Xueying,et al. Association of Genetic Polymorphisms and Age-Related Macular Degeneration in Chinese Population[J]. INVESTIGATIVE OPHTHALMOLOGY &amp; VISUAL SCIENCE,2012,53(7):4262-4269.
APA Tian, Jun.,Yu, Wenzhen.,Qin, Xueying.,Fang, Kai.,Chen, Qing.,...&Li, Xiaoxin.(2012).Association of Genetic Polymorphisms and Age-Related Macular Degeneration in Chinese Population.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,53(7),4262-4269.
MLA Tian, Jun,et al."Association of Genetic Polymorphisms and Age-Related Macular Degeneration in Chinese Population".INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 53.7(2012):4262-4269.
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