Estudio de suceptibilidad genética a la degeneración macular asociada a la edad (DMAE)

Abstract

Age-related macular degeneration is the leading cause of severe and irreversible central vision loss in people over 50 in developed countries. This disease can be classified into two groups, wet and dry, the latter being the object of study in this paper, which is characterized by the development of choroidal neovascularization. Due to the importance of SNPs in the development of this disease, three polymorphisms belonging to the gene that encodes endogline (rs1998923, rs1330683 and rs1330684) and a polymorphism belonging to the gene that encodes preseniline-1 (rs165932) will be studied. Therefore, the objective of this work is to determine if the development of this disease is related to these polymorphisms. For this purpose, a total of 326 DNA samples were selected from patients at the University Hospital of Salamanca, of which 175 were diagnosed with wet age-related macular degeneration (cases) and 151 with cataracts (controls). The different genotypes were analysed using allelic discrimination with Taqman® probes. After performing the chi-squared test to check whether there was a statistically significant difference (p < 0.05), it is concluded that the development of wet age-related macular degeneration will not be related to these polymorphisms.