Genetic Association in Korean AMD patients

초록

Purpose This study was undertaken to investigate the association between some genotypes including complement factor H gene (CFH), age-related maculopathy susceptibility 2 (LOC388715/ARMS2) gene and HTRA1 gene and age related macular degeneration(AMD) in Korean population. Design, Setting, and Participants Genomic DNA was isolated from the 137 patients with exudative AMD and 187 control subjects. Six SNPs including Y402H variation in CFH gene, S69A in Loc387715/ARMS2 and promoter of HtrA1 were genotyped by PCR-based direct sequencing. Results The difference between the Y402H variant in exudative AMD and normal control subjects did not reach statistical significance (p= 0.2521). However, in Loc387715/ARMS2, the odds ratio(OR) for risk of AMD was 3.80 for the homozygotes for the risk allele (TT genotype) with statistical significance (p=0.0001). In terms of the HtrA1, the OR was 4.03 for the homozygotes for the risk allele with statistical significance. (p=0.0001) Conclusions In Korean population, Y402H polymorphism is not significantly associated with exudative AMD whereas the LOC388715/ARMS2 and HTRA1 variants are strongly associated with exudative AMD.