Introduction: Osteoporosis is a chronic metabolic disease with multifactorial etiology. One of possible osteoporosis causes may be impairment of osteoclasts function which leads to increased bone resorption. This may be a result of many metabolic changes. It is believed that changes of folate-methionine metabolism in osteoporosis play an essential role in the etiology of this disease.
Objective: The aim of this study was to examine how polymorphisms of SLC19A1 and FOLR3 genes may play the key role in folate-methionine pathway and influence on the etiology of osteoporosis.
Results: The statistically overrepresentation of mutated GG genotype of FOLR3 (rs11235449) was observed in the control group compared to the osteopenia (34.9% in osteopenia vs. 37.8% in controls, p=0.025, OR=0.61). As to the SLC19A1 (rs3788200) polymorphism we have noted the statistically significant over-representation of wild-type GG genotype (35.8% vs. 26.2%, p=0.046, OR=1.57) and overrepresentation of wild-type G allele (56.9% vs. 50.2%, p=0.061, OR=1.31) in osteopenia group if compared to the controls.
Conclusions: In our study we shown the protective role of mutated GG genotype of FOLR3 (rs11235449) polymorphism to osteopenia progress and possible role of wild-type GG genotype and wild-type G allele of SLC19A1 (rs3788200) polymorphism in osteopenia development.