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  • Title: Association of LOC387715/ARMS2 (rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian Population.
    Author: Hirata FE, de Vasconcellos JP, Medina FM, Rim PH, Fulco EA, de Melo MB.
    Journal: Ophthalmic Genet; 2015; 36(3):224-8. PubMed ID: 24372405.
    Abstract:
    BACKGROUND: An association between LOC387715/ARMS2 (rs10490924) gene polymorphism and AMD has been reported. The aim of this study was to evaluate whether this polymorphism is associated with AMD in a Brazilian cohort. MATERIALS AND METHODS: In total, 126 unrelated AMD patients (mean age 74.17 ± 7.64) were compared with 86 healthy controls (mean age 71.82 ± 7.12). Study subjects were classified according to the International ARM Epidemiological Study Group definition for early and late-stage AMD. LOC387715/ARMS2 rs10490924 polymorphism was evaluated through polymerase chain reaction and direct sequencing. RESULTS: The T allele frequency was significantly higher in AMD patients than in controls (39.6% compared to 20.3%). The odds ratio (OR) for AMD was 2.05 (95% CI 1.13-3.71) for heterozygotes (TG) and 8.32 (95% CI 2.30-45.99) for homozygotes (TT). CONCLUSIONS: These results suggest that there is a contribution of the rs10490924 SNP of the LOC387715/ARMS2 gene to AMD susceptibility in this sample of the Brazilian population.
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