Background: To investigate the possible association of the rs2165241 polymorphism (C > T) in LOXL1 gene with the risk of primary open-angle glaucoma in a Mediterranean population.
Methods: The analysis of genetic polymorphisms was performed by standard TaqMan allelic discrimination technique, using a 7900HT Sequence Detection System (Applied Biosystems).
Results: In a recessive genetic model, the T allele of the rs2165241 polymorphism was significantly associated with the risk of primary open-angle glaucoma (TT vs. CC: odds ratios = 2.19, 95% confidence interval = [1.33-3.62]). After multivariate logistic regression model adjusted by age and weight, the magnitude of the association decreased but remained statistically significant (TT vs. CC: odds ratios = 2.07, 95% confidence interval = [1.20-3.57]).
Conclusion: This polymorphism seems to be associated with high risk for primary open-angle glaucoma in a Mediterranean population.
Keywords: LOXL1 polymorphism; Mediterranean population; genetics; primary open-angle glaucoma.
© 2014 Royal Australian and New Zealand College of Ophthalmologists.