Purpose: To evaluate the association and interaction of single nucleotide polymorphisms in CFH and LOC387715/ARMS2 with age-related macular degeneration (AMD) in a Korean population.
Methods: A total of 114 exudative AMD patients and 240 normal subjects participated in the study. PCR and direct sequencing were used to screen SNPs in the CFH and in the LOC387715/ARMS2. Genotype and haplotype analyses were performed. Two-locus gene-gene interactions were evaluated by the data mining approach multifactor-dimensionality reduction method.
Results: The *C/*T genotype frequency of rs1061170 in CFH showed a significant difference (OR = 1.79). Genotype and allele frequencies of rs551397 (*C/*C, OR = 2.84; *C, OR = 1.67) and rs800292 (*G/*G, OR = 2.198; *G, OR = 1.676) in CFH, and rs10490924 (T/*T, OR = 12.45; *T, OR = 4.45) and rs2736911 (*C/*C, OR = 3.21; *C, OR = 2.71) in LOC387715/ARMS2 were significantly higher in patients. In the haplotype analysis, C-T of rs2736911-rs10490924 in LOC387715/ARMS2 (OR = 4.85) and C-G of rs551397-rs800292 in CFH (OR = 2.22) predisposed significantly to AMD. After cross-validation consistency (CVC) and permutation tests, we identified the 1 marker model (rs10490924), which has a prediction accuracy of 73.5%, and the two locus model, rs10490924_ rs800292, with 75.3% balanced accuracy in predicting AMD disease risk.
Conclusions: Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variants might be at a greater risk for the development of exudative AMD. Furthermore, the risk of exudative AMD may increase significantly if these variants are both present in the two genes.