POLYMORPHISM OF COL1A1, VDR GENES IN PATIENTS WITH BONE CYSTS

Abstract

Background. The relationship between the decrease in bone mineral density, a violation of bone metabolism and functionally defective alleles of the VDR and SOL1A1 genes was proved. Taking into account the peculiarities of bone biodynamics and the fact that in the period from 5 to 16 years, the bone mineral density increases by 3 times, which coincides with the age period for the detection of bone cysts in children, the study of polymorphism of the VDR and COL1A1 genes (which mainly regulate bone formation) in patients with bone cysts is relevant today. Aim. To investigate the polymorphism of collagen type 1 (COL1A1), vitamin D receptor (VDR) genes in children with bone cysts, to establish the influence of the gene factor on the development of this pathology. Material and methods. During the period from June to December 2021, the polymorphism COL1A1, VDR was studied in 27 patients diagnosed with bone cysts. 41 patients with other orthopedic and traumatological pathology were examined as comparison groups. Genotyping of polymorphic alleles of the VDR and COL1A1 gene was performed by "real time" polymerase chain reaction. Results. In patients with bone cysts, the frequency of heterozygous genotype AG and homozygous GG was the same – 37% for each, the AA genotype accounted for 26%. In children from the comparison group, heterozygous genotype AG and homozygous AA were found with the same frequency – 39% each, genotype GG – 22% each. In patients with bone cysts, the frequency of homozygous genotype AA and heterozygous CA was the same – 15% for each, the CC genotype accounted for 70%. In children from the comparison group, homozygous genotype CC was found in 70.5% of cases, heterozygous genotype CA – 27%, homozygous genotype AA – 2.5%. Conclusions. It was found that the percentage of mutant homozygous type for the VDR and COL1A1 genes is higher in patients with bone cysts. There is a certain genetically determined relationship between bone cysts and a violation of bone formation and bone resorption.