The Association between SIRT1 rs3740051 and age-related macular degeneration

Abstract

Introduction: Age-related macular degeneration (AMD) is a neurodegenerative disease that causes loss of vision mostly in people over 60 years in developed countries [1]. The precise pathogenesis of AMD not yet clarified, although it has been associated with genes regulating complement, lipid, angiogenic, and extracellular matrix pathways [2]. The SIRT1’s dysregulation leads to the disappearance of a protective effect against retinal degeneration [3]. The aim of this work was to examine rs3740051 variant in SIRT1 gene promoting to AMD development. Methods: The study enrolled 181 patients with early AMD, 140 patients with exudative AMD and 189 healthy control subjects. DNA extracted from blood using the silica-based membrane technology utilizing a genomic DNA extraction kit (QIAamp DNA Mini Kit, Genomic DNA Purification Kit, QAIGEN), according to the manufacturer’s recommendations. The genotyping performed using the RT-PCR method. Statistical analysis was performed using the SPSS / W 20.0 software (Statistical Package for the Social Sciences for Windows, Inc., Chicago, Illinois, USA). Results: Genotype (AA, AG, GG) distributions were determined in early AMD, exudative AMD and control groups: 84.2 %, 15.3%, 0.6%; vs. 86.1%, 13.1%, 0.7% and vs. 85.6%, 12.8%, 1.6%, respectively. Statistical analysis did not reveal significant differences between patients with early AMD and healthy controls (p=0.519). Also, genotype distribution did not differ comparing exudative AMD and control groups (p=0.781). Conclusion: There was not found any associations of SIRT1 rs3740051 with early and exudative AMD development.