Objective: The association among genetic variants in VEGFR1 and a predisposition to age-related macular degeneration (AMD) in a northern cohort from China was evaluated.
Methods: A retrospective case-control correlation study was conducted on 432 cases and 906 gender-and ethnicity-matched controls. Whole DNA was isolated from peripheral blood samples after the individuals underwent detailed eye examinations. Eight single nucleotide polymorphisms (SNPs) in VEGFR1 genes were genotyped for all individuals using a MALDI-TOF technique. The distribution of genotypes was analyzed for Hardy-Weinberg equilibrium and the relationships among the genotype and allele frequencies with AMD were evaluated by age-adjusted logistic regression analysis. The measurement of linkage disequilibrium (LD) was carried out by Haploview 4.2. Bonferroni testing was employed to correct for multiple comparisons.
Results: Among the SNPs genotyped, p values of six SNPs were less than 0.05 between AMD cases and unaffected controls. However, after Bonferroni correction, the genotype and allele distributions of only two SNPs, rs9554322 and rs9582036 differed significantly between the controls and AMD patients. Further, the rs9554322 CC genotype conferred strong susceptibility to AMD (OR = 6.057, 95% CI: 3.099-11.839). Rs9943922 was also found to be significantly associated with AMD in the distributions for the genotype and allele recessive model (p = 0.004). The specific haplotype CA of rs9582036 and rs9554320 was associated with AMD (p = 0.035), but the correlation did not remain after correction.
Conclusions: The SNPs rs9554322, rs9582036 and rs9943922 were correlated with AMD. Gene variants in VEGFR1 were linked to a pronounced emerging risk for AMD in a population in northern China.
Keywords: Age-related macular degeneration; VEGFR1 gene; genetic polymorphisms.