Abstract
Purpose: :
To investigate the association between LOC387715/ARMS2 gene and age-related macular degeneration (AMD) in a cohort from Brazil and also to determine whether this variant interacts with two modifiable risk factors, smoking and obesity.
Methods: :
We examined 76 affected individuals and 70 sex-age matched controls recruited at the Vision Institute and the Retina Department, São Geraldo Hospital, Minas Gerais Federal University, Brazil, between 2007 and 2008. Genotyping for the LOC387715/ARMS (rs10490924) single nucleotide polymorphism (SNP) on chromosome 10q26 was performed. The incidence rate ratios and 95% confidence interval for AMD for this genotype was determined; interactions with modifiable risk factors were also studied.
Results: :
Mean age was 74.4 (±8.9) years. It was observed a prevalence of 52.6% for G>T (rs104909240 heterozygosity and 19.7% for homozygosity among AMD cases compared with 31.4% and 7.1%%, respectively, among controls (p<0,05). Subjects with one copy of A69S variant had a 4.17 (p<0,0001) (95% CI, 2.07-8.36) fold increased risk of AMD. Interactions between A69S polymorphism and smoking or obesity were not statistically different.
Conclusions: :
The present data provide a strong association of LOC387715/ARMS (rs10490924) polymorphism among Brazilian patients and AMD. However, cigarette smoking and obesity did not seem to increase the risk of AMD in this population.
Keywords: age-related macular degeneration • genetics • gene screening