Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population

作者：Wenjuan Zhuang, Huiping Li, Yani Liu, Jingjing Zhao, Shaoping Ha, Xiang Wei, Xuewei Bai, Zili Li, Ying Han, Xunlun Sheng · 发表于：Ophthalmic Genetics · 年份：2014 · DOI：10.3109/13816810.2014.921314 · 被引用次数：11 · 研究领域：Retinal Diseases and Treatments、Ophthalmology and Visual Impairment Studies、Glaucoma and retinal disorders

PURPOSE: The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated. METHODS: A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. Genomic DNA was prepared from peripheral blood after the participants underwent comprehensive eye examinations. All individuals were genotyped for eight single nucleotide polymorphisms (SNPs) in four specific genes. Genotypic distribution was tested for Hardy-Weinberg equilibrium. Statistical analysis was performed for genotype, allele and haplotype frequencies along with their p values and corresponding odds ratios (OR), 95% confidence intervals (95% CI) and measures of linkage disequilibrium (LD). Bonferroni corrections for multiple comparisons were performed. RESULTS: Among the SNPs genotyped, p values of seven SNPs were less than 0.05 in the genotypic distributions and allele frequencies between AMD and control subjects. However, after Bonferroni correction, the genotype and allele distributions of two SNPs in CFH (rs10737680, rs1410996), one SNP (rs10490924) in ARMS2 and one SNP (rs11200638) in HTRA1 differed significantly between the controls and AMD patients. Two SNPs were significantly associated with AMD in the allele distributions. They were rs800292 (p(allele) = 0.006, OR [CI] = 1.643[1.155-2.336]) in CFH and rs641153 (p(allele) = 0.002, OR [CI] = 0.2...