Influence of gene expression and genetic variants involved in the vasculature and lipidic metabolism in age-related macular degeneration

Abstract

Age-related macular degeneration (AMD) is a complex disorder of multifactorial eye that affects the elderly, being the third leading cause of blindness worldwide. AMD results in progressive and irreversible loss of central vision that affects the macula of the eye and involves the retinal pigment epithelium (RPE), Bruch's membrane (BM), coriocapilares. Genetic risk factors have been associated with the disease, including high expression of the gene variants and polymorphisms of vascular endothelial growth factor (VEGF), apolipoprotein E4 (APOE*4), and a member of the A subfamily of ABC transporters adenosine triphosphate-binding cassette (ABCA4). Objectives: Evaluate the influence of polymorphisms VEGF-C936T, APOE-HhaI and ABCA4 in patients with age-related macular degeneration (ARMD); evaluate the gene expression of VEGF, ABCA4, and APOE in peripheral blood of patients with AMD (exudative form) and verify the existence of a correlation between the expression of the different genes proposed for each group, separately. Methods: 300 individuals will be selected, regardless of gender, ethnicity and age in three groups. Group 1 (G1) - 100 individuals diagnosed with age-related macular degeneration in dry form, Group 2 (G2) -100 individuals with macular degeneration related to age as exudative and Group 3 (G3) - 100 individuals with macular degeneration not related with age. Nucleic acids (DNA and RNA) are extracted from peripheral blood and glass, respectively. Conventional PCR will be performed in real time for analysis of samples. The biochemical analysis are carried out using enzyme immunoassay (EIA) and by ELISA . Statistical analysis will include the Fisher exact test, multivariate regression, with significance level P <0.05.