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Fabio E. Hirata, Priscila H. Rim, Andrea M. Torigoe, Enzo A. Fulco, Anderson Tavares, Marcio J. Silva, Daniela Stancato, Jose P. Vasconcellos, Monica B. Melo; LOC387715/ARMS2 Polymorphism Analysis In Brazilian Patients With Age-related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5264.
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Age-related macular degeneration (AMD) is a prevalent cause of blindness in the elderly. The exudative form of AMD is usually rapidly progressive and associated with a more severe prognosis compared to the atrophic form of the disease. A positive association between A69S polymorphism of the LOC387715/ARMS2 gene and AMD has been reported in different populations. Our purpose was to investigate this association in a Brazilian population affected with both forms of AMD, in a case-control study.
A series of unrelated AMD patients (n=113) were compared with healthy controls (n=84). AMD patients were diagnosed according to the International Classification System and subdivided into three phenotype categories: early AMD, geographic atrophy and exudative AMD. A region of exon 1 of LOC387715/ARMS2 was examined for the A69S polymorphism by PCR-direct sequencing.
Genotype distribution of the A69S polymorphism was significantly different between cases compared to controls (Χ2=15.76 with 2 df, p=0.0003). The odds ratio (OR) for AMD was 2.12 CI95% (1.11-4.07) for heterozygotes (GT) and 10.84 CI95% (2.23-71.70) for homozygotes (TT). The T allele frequency was significantly higher in AMD patients than controls (38.4% compared to 19.6%; p<0.0001).
These results suggest that there is a contribution of the A69S polymorphism of the LOC387715/ARMS2 gene to AMD susceptibility in the Brazilian population.
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