Association of Genetic Polymorphisms and Age-Related Macular Degeneration in Chinese Population
Association of Genetic Polymorphisms and Age-Related Macular Degeneration in Chinese Population
复制标题
DOI：
10.1167/iovs.11-8542
复制
发表时间：
2012-06-01
影响因子：
4.4
通讯作者：
Li, Xiaoxin
中科院分区：
文献类型：
--
作者：
Tian, Jun;Yu, Wenzhen;Li, Xiaoxin
目的。我们在中国全国人群中探讨了年龄相关性黄斑变性（AMD）与10个基因的遗传变异之间的关系。在这项多中心病例对照研究中，从中国南北分布的16个中心招募了535名AMD患者和469名对照者。所有参与者都进行了全面的眼科检查，并选择了10个基因的40个单核苷酸多态性（SNPs）。DNA样本用MassArray系统进行基因分型。采用logistic回归分析评估基因型和单倍型对AMD的影响，并对年龄、性别、长期居住和家庭血统进行调整。在我们的研究中，补体H （CFH）中的11个snp、年龄相关性黄斑病变易感性2 （ARMS2）中的2个snp和高温需要因子A1 （HTRA1）中的2个snp与AMD显著相关。CFH分别为rs551397、rs800292、rs1329424、rs1061170、rs10801555、rs12124794、rs10733086、rs10737680、rs2274700、rs1410996、rs380390；rs10490924和rs2736912在ARMS2；HTRA1中的rs11200638和rs3793917。CFH的三种单倍型显著使患者易患AMD（分别为P < 0.001, P = 0.001和P < 0.001）。根据我们研究的样本量，没有发现AMD和补体3 （C3）中检测的snp之间的关系；丝氨酸肽酶抑制剂，分支G，成员1 (SERPING1)；血管内皮生长因子；胆固醇酯转移蛋白；脂蛋白脂肪酶；肝脂肪酶；和金属肽酶抑制剂3 （TIMP3）基因。在中国人群中，CFH、ARMS2和HTRA1基因变异导致AMD。（Invest Ophthalmol Vis Sci. 2012;53:4262-4269） DOI:10.1167/iovs.11-8542
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