ECTS2016 Poster Presentations Genetics and Epigenetics (25 abstracts)
Osteoarthritis is a complex pathogenesis because diverse factors interact causing a process of deterioration of the cartilage and the subchondral bone. Despite the multifactorial nature of the knee osteoarthritis, it is related to a strong genetic component. Determination of molecular genetic causes of osteoarthritis is an actual problem. There are several approaches to assess the contribution of a candidate gene in the pathogenesis of osteoarthritis. The aim of the study was to determine the alleles frequency of genes - regulators of cartilage metabolism in postmenopausal women with knee osteoarthritis in Ukrainian population, and to assess the contribution of different polymorphisms in the risk of developing the disease.
Material and methods: DNA extraction was performed using the phenolchloroform method from whole blood. Using PCR followed by restriction digestion and visualization of the reaction products in polyacrylamide gel have been studied 77 patients with knee osteoarthritis and 125 healthy people of the same age. We studied the polymorphism 60890 A/G of vitamin D receptor gene, -764 T/G of ERα gene and -234 T/G polymorphism of collagen type 1 gene.
Results: We did not found association of polymorphism -234 T/G polymorphism of collagen type I α1 (OR=1.55 (CI 95% 0.862.79)) with the risk of knee osteoarthritis developing. Also we have not found association of polymorphism -764 T/G of ERα gene (OR=0.91 (CI 95% 0.263.23)) and polymorphism 60890 A/G of vitamin D receptor gene (OR=1.21 (CI 95% 0.662.19)) with the risk of knee osteoarthritis.
Results: Knowing association between pathogenic alleles, candidate genes and knee osteoarthritis in Ukrainian population will allow using genetic testing to identify predisposition to the disease. The results of this study are important for a more rational organization of the prevention and treatment of the illness in the early stages of disease development.
14 May 2016 - 17 May 2016