Rs890293 gene polymorphism association with early age-related macular degeneration

Abstract

Introduction: Age-related macular degeneration (AMD) is a disease affecting the central part of the retina, called macula, which significantly induce the eyesight and leads to irreversible central vision loss. AMD has a multifactorial etiology, involving environmental, metabolic, functional and genetic factors. It is known that some genes, their polymorphisms play relevant role in pathogeneses of AMD. As CYP2J2 gene encodes cytochrome P450 proteins, which are involved in metabolism of cholesterol, steroids and other lipids, for this reason it was selected for investigation in our research. Purpose: to determine the association between CYP2J2 (-76G>T) Rs890293 gene polymorphism and early AMD. Methods: The study involved 204 patients with early AMD and 294 control individuals. DNA was obtained from patients’ white blood cells, taken from venous blood. Samples of DNA were purified and analyzed using commercial kits. The genotyping of Rs890293 was carried out using real-time polymerase chain reaction method. Results: The CYP2J2 Rs890293 TT genotype was statistically significantly less frequent in patients with early AMD than in control individuals: 0 % vs. 2.5 % (p=0.028). Also, Rs890293 TT polymorphism was statistically less common in AMD patients comparing to control group persons in older age group (≥65 years): 0% vs. 5.4% (p=0.03). Conclusion: CYP2J2 gene TT genotype may be associated with reduced risk of early AMD development. Therefore, further study is required to be repeated by examining a greater sample size.