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N. Puche, J. Zerbib, N. Leveziel, F. Richard, S. Cohen, J.-F. Korobelnik, J. A. Sahel, J. Kaplan, J.-M. Rozet, E. Souied; R102g Polymorphism of the C3 Gene Associated With Age-Related Macular Degeneration in the French Population. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1271.
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Major genetic factors for age-related macular degeneration (AMD) have recently been identified as susceptibility risk factors, underlying the role of the complement pathway in AMD. Our purpose was to analyze the role of the R102G polymorphism of the C3 gene in a French population, in a case-control study
1241 AMD patients and 406 controls have been recruited in 4 French ophthalmologic centres and genotyped for the Y402H of CFH, rs10490924 of ARMS2 and rs2230199 (R102G) of the C3 gene. Information on cigarette smoking was obtained by interview at baseline.
The distribution of the R102G genotypes was significantly different in the AMD patients compared to controls (p< 0.02). The adjusted Odds Ratio compared to CC individuals was 1.4 (95% confidence interval 1.1 to 1.8) for CG individuals and 1.5 (95% confidence interval 0.9 to 2.5) for GG individuals. Analysis of the interactions revealed strong interactions between C3 gene and ARMS2, male and smoking.
Our study show a significant association between R102G variant in the C3 gene and AMD in the French Population, and raise the possibility of interactions between C3 and other risk factors for AMD.
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