Purpose: Since some studies have reported differences in the association of age-related macular degeneration (AMD) with biological sex, we set out to determine whether the difference in the disease susceptibility is afforded by common single nucleotide polymorphisms (SNPs) associated with AMD.
Methods: We genotyped 2067 Caucasian subjects from the Age-Related Eye Disease Study cohort for commonly associated AMD SNPs, including those in CFH (rs1061170, rs1410996, and rs3766404), ARMS2 (rs10490924), and C3 (rs2230199) using either a Sequenom MassARRAY MALDI-TOF mass spectrometer or using Taqman genotyping reagents. A Cox proportional hazards model was used to determine the effect of genotype, age, sex, and smoking status on the development of AMD.
Results: All tested SNPs genotyped are associated strongly with AMD (p < 0.0001), in concordance with previous studies. However, we found no observable differences in any of the SNPs studied when categorized by sex. Interactions between SNPs and sex were found to be not statistically significant (p = 0.38-0.79).
Conclusions: The difference between male and female incidence of AMD is not explained by the most commonly AMD-associated SNPs, though it does not exclude the possibility that other, less common SNPs contribute to this difference.
Keywords: Age-related macular degeneration; SNPs; genetics; sex.