rs5882 and rs708272 association with early age-related macular degeneration in younger age

Abstract

Introduction. Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in elderly people [1]. The main pathological hallmark of the disease is drusen or lipid and protein deposits formation in the RPE and the Bruch’s membrane (BrM) [2]. Genetic variants in genes encoding components of lipid metabolism have been found to result in the lipid particle deposition, formation of drusen in the retina as well as the BrM, thereby affecting retinal function [3]. Cholesteryl ester transfer protein (CETP) regulates the concentration of cholesteryl esters in high-density lipoproteins (HDL) and transfers oxidized lipids from the outer segments of the photoreceptors and other membranes to HDL-like lipoprotein particles [4-5]. Therefore, single nucleotide polymorphisms (SNPs) in CETP may lead to the accumulation of oxidized lipids, which contributes to the development of AMD [5]. Materials and methods. A total of 296 subjects aged <65 years were examined, including patients with early AMD (n=74) and healthy controls (n=222). DNA was extracted from 200 μL venous blood using the silicabased membrane technology utilizing a genomic DNA extraction kit according to the manufacturer’s recommendations. The genotyping of CETP polymorphisms (rs5882, rs708272) was carried out using the real-time PCR. Results. Statistical analysis showed that rs5882 and rs708272 genotype distributions in patients with early AMD and healthy controls were similar and did not reveal any significant associations between rs5882 and rs708272 SNPs and early AMD development in patients aged <65 years. Conclusions. rs5882 and rs708272 variants in CETP gene do not contribute to early AMD development in younger age.