title: No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est Creteil, France.
authors.forename: Jennyfer
authors.initials: J
authors.lastname: Zerbib
authors.forename: Nathalie
authors.initials: N
authors.lastname: Puche
authors.forename: Florence
authors.initials: F
authors.lastname: Richard
authors.forename: Nicolas
authors.initials: N
authors.lastname: Leveziel
authors.forename: Salomon Y
authors.initials: SY
authors.lastname: Cohen
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Korobelnik
authors.forename: José
authors.initials: J
authors.lastname: Sahel
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.forename: Eric H
authors.initials: EH
authors.lastname: Souied
mesh_terms: D000368:Aged; D000073883:CX3C Chemokine Receptor 1; D016022:Case-Control Studies; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D019707:Receptors, Chemokine / Q000235:genetics*; D041623:Tomography, Optical Coherence
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D000073883:CX3C Chemokine Receptor 1; C095235:CX3CR1 protein, human; D011506:Proteins; D019707:Receptors, Chemokine; D017242:Complement Factor H