Abstract
We investigated the association between
(rs3742330) and
(rs10719) polymorphisms and pseudoexfoliation glaucoma (PXG) and related clinical phenotypes in a Saudi cohort. In a retrospective case-control study, TaqMan real-time, PCR-based genotyping was performed in 340 participants with 246 controls and 94 PXG cases. The minor (G) allele frequency of rs3742330 in PXG (0.03) was significantly different from that in the controls (0.08) and protective against PXG (odds ratio (OR) = 0.38, 95% confidence interval (CI) = 0.16-0.92),
= 0.017). Similarly, the rs3742330 genotypes showed a significant protective association with PXG in dominant (
= 0.019, OR = 0.38, 95% CI = 0.15-0.92), over-dominant (
= 0.024, OR = 0.39, 95% CI = 0.16-0.95), and log-additive models (
= 0.017, OR = 0.38, 95% CI = 0.16-0.92). However, none remained significant after an adjustment for age, sex, and multiple testing. Rs10719 in DROSHA did not show any significant allelic or genotype association with PXG. However, a protective effect of the GA haplotype in
and
and PXG (
= 0.034) was observed. Both polymorphisms showed no significant effect on intraocular pressure and the cup-disk ratio. In conclusion, we report a significant genetic association between variant rs3742330 in
, a gene involved in miRNA biogenesis, and PXG. Further investigation in a larger group of patients of different ethnicities and functional studies are warranted to replicate and validate its potential role in PXG.