CYP4F2 (rs2108622) Gene Polymorphism Association with Age-Related Macular Degeneration

Abstract

Background. Age-related macular degeneration is the leading cause of blindness in elderly individuals where aetiology and pathophysiology of age-related macular degeneration are not absolutely clear.Purpose. To determine the frequency of the genotype of rs2108622 in patients with early and exudative age-related macular degeneration.Methods. The study enrolled 190 patients with early age-related macular degeneration, 181 patients with exudative age-related macular degeneration (eAMD), and a random sample of 210 subjects from the general population (control group). The genotyping of rs2108622 was carried out using the real-time polymerase chain reaction method.Results. The analysis of rs2108622 gene polymorphism did not reveal any differences in the distribution of C/C, C/T, and T/T genotypes between the early AMD group, the eAMD group, and the control group. TheCYP4F2(1347C>T)T/Tgenotype was more frequent in males with eAMD compared to females (10.2% versus 0.8%;p=0.0052); alsoT/Tgenotype was less frequently present in eAMD females compared to healthy control females (0.8% versus 6.2%;p=0.027).Conclusion. Rs2108622 gene polymorphism had no predominant effect on the development of early AMD and eAMD. TheT/Tgenotype was more frequent in males with eAMD compared to females and less frequently present in eAMD females compared to healthy females.