Gender-Specific Associations of CYP4F2 (rs1558139) Gene Polymorphism and Serum Levels in Early and Exudative...

The study aimed to assess the potential association between CYP4F2 rs1558139 gene polymorphism, serum CYP4F2 levels, and the development of age-related macular degeneration (AMD).

A total of 204 patients with early AMD, 204 patients with wet AMD, and 294 healthy individuals as controls participated in this study. Genotyping of rs1558139 was carried out using real-time polymerase chain reaction (RT-PCR), while levels of serum CYP4F2 protein were determined by enzyme-linked immunosorbent assay (ELISA).

The allele A at CYP4F2 rs1558139 was statistically significantly less frequent in females with early AMD than in the control females (46.8% vs. 54.77%, p=0.037). However, in the exudative AMD group, the AA genotype was more frequent in women than in men (31.9% vs. 17.3%, p<0.001). Serum CYP4F2 concentration was higher in early and exudative AMD groups than in controls (5.394 (3.554) vs. 1.599 (4.142), p=0.013 and 8.422 (8.356) vs. 1.599 (4.142), p<0.001, respectively).

The CYP4F2 rs1558139 polymorphism shows gender-specific associations with AMD. The A allele is less frequent only in females with early AMD, while the AA genotype is more common in women with exudative AMD. A higher serum CYP4F2 level may contribute to the development of AMD.