Determination of molecular genetic causes of osteoporosis is an actual problem. There are several approaches to assess the contribution of a candidate gene in the pathogenesis of osteoporosis. One of them consists in determining the correlation between allelic polymorphism and candidate factors which cause the disease, which in comparison estimates allele frequencies of candidate genes in osteoporosis patients with individuals not having the disease and preserving normal bone mineral density. The aim of the work was to determine the alleles frequency of genes - regulators of bone metabolism in patients with osteoporosis in Ukrainian population, and to assess the contribution of different polymorphisms in the risk of developing the disease. DNA extraction was performed using the phenol-chloroform method from whole blood. Using PCR followed by restriction digestion and visualisation of the reaction products in polyacrylamide gel have been studied 180 patients with osteoporosis and 160 healthy people of the same age. We have found association of polymorphism 60890 A/G of vitamin D receptor gene (OR=3,2 (CI 95% 2,2-4.6)) and -234 T/G polymorphism of collagen type 1 gene (OR=2,8 (CI 95% 2,1-4.1)) with the risk of osteoporosis developing. We have not found association of polymorphism -764 T/G of oestrogen receptor gene (OR=1,2 (CI 95% 0,6-2,3)). Knowing association between pathogenic alleles, candidate genes and osteoporosis in Ukrainian population will allow to use genetic testing to identify predisposition to the disease. The results of this study are important for a more rational organisation of the prevention and treatment of the illness in the early stages of disease development.
Disclosure: The authors declared no competing interests.