Abstract
Purpose: :
To investigate whether the LOC387715 polymorphism is associated with polypoidal choroidal vasculopathy (PCV) and with vitreous hemorrhage (VH), one of the most severe clinical phenotypes, in the Japanese population.
Methods: :
One hundred and nine Japanese patients with PCV, comprised of 9 patients associated with VH (VH group) and 100 patients without VH (non-VH group), and 85 control subjects were analyzed for the LOC387715 polymorphism (rs = 10490924), using denaturing high performance chromatography.
Results: :
There was a significant difference in the T allele frequency between PCV patients and control subjects (P < 0.001). In comparison with wild-type homozygosity (GG), homozygosity for the at-risk allele genotype (TT) increased the likelihood for PCV 8.4-fold (3.6 to 19.5, 95% confidence interval [CI]) and heterozygosity for the at-risk allele genotype (TG) increased the likelihood for PCV 4.0-fold (1.9 to8.4, 95% CI). There was a significant difference in the genotypic frequency at the LOC387715 site between the VH and non-VH groups (P = 0.0099, Chi-square test) with the TT genotype occurring in 88.9% in the VH group and 37.0% in the non-VH group. The frequency of the T allele in the VH group was significantly greater than that in the non-VH group (0.944 vs. 0.610, P = 0.0039, Fisher exact test).
Conclusions: :
The LOC387715 polymorphism is associated with PCV and clinical severity in the subgroups of PCV in the Japanese population.
Keywords: age-related macular degeneration • genetics • vitreous