Bone Abstracts

Osteoporosis has a complex etiology and is considered a multifactorial polygenic disease in which genetic determinants are modulated by hormonal, environmental, and nutritional factors.

Polymorphism of the vitamin D receptor gene has been reported to play a major role in variations for genetic regulation of bone mass but its role within various ethnic populations is not clear. Estrogens are known to play an important role in regulating bone homeostasis, they act through binding to two different estrogen receptors (ER) and different polymorphisms of these receptors were described. A polymorphism in the collagen type I α1 gene also has been associated with low bone mass and fracture incidence.

The aim of the study was to determine the alleles frequency of genes – regulators of bone metabolism in patients with osteoporosis in Ukrainian postmenopausal women, and to assess the contribution of different polymorphisms in the risk of developing the disease.

Material and methods: DNA extraction was performed using the phenol–chloroform method from whole blood. Using PCR followed by restriction digestion and visualization of the reaction products in polyacrylamide gel have been studied 180 patients with osteoporosis and 160 healthy people of the same age.

Results: We have found association of polymorphism 60890 A/G of VDD receptor gene (OR=3.2 (CI 95% 2.2–4.6)) and -234 T/G polymorphism of collagen type type I α1 (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 ER gene (OR=1.2 (CI 95% 0.6–2.3)).

Conclusion: 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 organization of the prevention and treatment of the illness in the early stages of disease development.