Pseudoexfoliative glaucoma and molecular genetic characteristics of vitamin D metabolism

Purpose. To study the possible association of 25-hydroxyvitamin D level, and vitamin D receptor (VDR) gene polymorphisms (BsmI, ApaI, TaqI, FokI) with pseudoexfoliative glaucoma (PEG) clinical manifestations. Methods. We examined 160 subjects (72 males (45%), and 88 females (55%)) aged from 55 to 75 years, residents of St. Petersburg and Leningrad region. 122 patients with PEG were enrolled in the main study group, the control group comprised 38 subjects without PEG, primary open angle glaucoma (POUG) and pseudoexfoliation syndrome (PES). 25(OH)D serum levels were assessed by chemiluminescent immunoassay (CLIA) method. Detection of VDR gene allele polymorphisms (ApaI, BsmI, FokI, and TaqI) was carried out using polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP) technique. Results. Patients with PEG had lower 25(OH)D serum levels compared to patients in the control group (39.3 ± 1.2 and 52.7 ± 2.1 nMol/l, respectively, p < 0.01). The prevalence of vitamin D deficiency was found to be higher among PEG patients than among healthy subjects (86.4% and 59.5%, respectively, p < 0.01). The prevalence of b allele (p < 0.001) and bb genotype (p < 0.001) (BsmI polymorphism), as well as of f allele and ff genotype (p < 0.05) (FokI polymorphism) in PEG patients were higher compared to healthy subjects. We found that the Fallele carriers (FokI polymorphism) had greater corneal thickness than the ff genotype carriers (547.3 ± 4.1 μm and 502.1 ± 25.8 μm, respectively, p < 0.01). It was revealed, that bb genotype, Bb genotype (BsmI polymorphism), and ff genotype (FokI polymorphism) were associated with the increased risk of PEG (OR = 8.2, CI 95%: 3.4-19.9; OR = 3.9, CI 95%: 1.7-9.0; OR = 2.3, CI 95%: 1.2-4.5, respectively). Conclusions. Results of this study for the first time ever showed the association between BsmI and FokI VDR gene polymorphisms and pseudoexfoliative glaucoma