No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD

Major genetic factors for age-related macular degeneration (AMD) have recently been identified as susceptibility risk factors. The CX3CR1 gene has been shown to be associated with AMD in some studies. Our purpose was to analyze the role of the T280M polymorphism of the CX3CR1 gene in a large French population, in a case-control study. 1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of CFH, rs10490924 of ARMS2 and T280M of the CX3CR1 gene. The distribution of the Y402H of CFH and of the rs10490924 of ARMS2 was significantly different between cases and controls (p < 0.0001). The distribution of the T280M genotypes was not significantly different in the AMD patients compared to controls (p = 0.99). The Odds Ratio compared to TT individuals was 1.0 (95% CI 0.8–1.3) for TM individuals and 1.0 (95% CI 0.5–2.1) for MM individuals. The M allele frequency was 0.157 in cases and 0.154 in controls (p = 0.87).Our study exclude an association between the T280M of the CX3CR1 gene and exudative AMD in a French population.

► AMD is a polygenic and multifactorial disorder.
► The T280M polymorphism of the CX3CR1 gene has been shown to be associated to AMD.
► Previous studies showing an association were small series.
► We analyzed this polymorphism on a large French population of exudative AMD.
► We did not found an association between the T280M of CX3CR1 gene and exudative AMD.