R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population

[摘要] Purpose: Major genetic factors forage-related macular degeneration (AMD) have recently been identified assusceptibility risk factors, underlying the role of the complementpathway in AMD. Our purpose was to analyze the role of the R102Gpolymorphism of the complement component (C3) gene in a Frenchpopulation, in a case-control study. Methods: A total of 1,080 patients withexudative AMD and 406 controls were recruited and genotyped for Y402Hof complement factor H (CFH),rs10490924of age-related maculopathy susceptibility 2 (ARMS2), and R102Gof the C3 gene. Results: The distribution of the R102Ggenotypes was significantly different in the AMD patients compared tocontrols (p=0.02). The Odds Ratio compared to C/C individuals was 1.4(95% CI 1.1–1.8) for C/G individuals and 1.4 (95% CI 0.8–2.4) for G/Gindividuals. In a dominant model, the adjusted Odds Ratio for carriersof the G allele is 1.4 (95% CI 1.0–1.9; p=0.03). Conclusions: Our study shows C3to be a moderate susceptibility gene for exudative AMD in the Frenchpopulation.

[学科分类] 生物化学/生物物理