Artículos de revistas
Association Of Loc387715/arms2 (rs10490924) Gene Polymorphism With Age-related Macular Degeneration In The Brazilian Population.
Registro en:
Ophthalmic Genetics. , p. 1-5, 2013-Dec.
1744-5094
10.3109/13816810.2013.867449
24372405
Autor
Hirata, Fabio Endo
Vasconcellos, José Paulo Cabral de
Medina, Flávio MacCord
Rim, Priscila Hae Hyun
Fulco, Enzo Augusto Medeiros
Melo, Mônica Barbosa de
Institución
Resumen
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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