Analysis of the interaction of the vitamin D receptor gene alleles in myopia

Objective: to analyze the interaction of the vitamin D receptor (VDR) gene alleles in patients with myopia for use in its personalized early diagnosis and prevention. Material and Methods. The total sample of the study consisted of DNA samples of 226 people living on the territory of the Russian Federation. The control sample included 103 people: 45 men (43 %) and 58 women (56 %) with initial emmetropia (PZO length is 22.4–24.2 mm). DNA from venous blood was isolated according to C. Mathew by the phenol-chloroform extraction method. Genotyping was performed using the KASPTM Real-time, PCR method. Results. For the first time, the study of the combined effect of four alleles of the VDR gene on the functioning of various structures of the ocular apparatus, the violation of which can lead to the development of myopia, was carried out. Haplotype analysis revealed a protective combination of alleles b / b (rs1544410, BsmI) and T / T (rs2228570, Fok1) of the VDR gene, which provides normal synthesis of sclera collagen (p=0.03, x2 =4.51). Conclusion. Haplotypes B / B (rs1544410, BsmI) C / C (rs2228570) and B / b (rs1544410, BsmI) C / C (rs2228570) in the VDR gene were identified, which characterize the development of complicated myopia and can be used as diagnostic markers for early detection of predisposition to myopia and predictive and preventive measures.