To determine if paraoxonase 1 (PON1) gene polymorphisms have an effect on the risk of having age-related macular degeneration (AMD).
The study population consisted of 142 patients who were diagnosed with either exudative or atrophic AMD and 138 sex- and age-matched controls without AMD. Genotyping of the PON1 L55M and Q192R single-nucleotide polymorphisms was performed using real-time polymerase chain reaction and commercially produced kits. A full ophthalmic evaluation was performed in each subject, and all subjects were screened for hypertension, diabetes, hypercholesterolemia, and smoking history.
The PON1 MM and QQ genotypes were less frequent in patients with AMD than in control subjects (MM: 4 vs. 13%, P = 0.015; QQ: 15 vs. 27%, P = 0.020). A multivariate logistic regression analysis was also conducted. After adjusting for age, gender, and the prevalence of smoking, hypertension, diabetes, and hypercholesterolemia, the MM and QQ genotypes (MM/QQ vs. LL + LM/QR + RR) were found to be associated with a decreased risk of AMD (MM: odds ratio = 0.24, P = 0.007, 95% confidence interval: 0.09–0.68; QQ: odds ratio = 0.46, P = 0.013, 95% confidence interval: 0.25–0.85).
The authors found that subjects with the PON1 MM and QQ genotypes had a lower risk of AMD.