Effects of variations on bone metabolism related genes over bone mass and bone mineral density of osteoporosis patients

Osteoporosis is a skeletal disease that increase the risk of bone fractures, characterized by low bone mass and structural defects. Along with environmental factors, genetic factors can cause osteoporosis by disrupting the balance between bone formation and resorption. Investigation of variations in genes, that play a role in the bone biology is essential for discovering the role of genetic differences in the pathogenesis of disease. In our study, we investigate the relations between genetic profiles and disease related parameters in 105 patients and 29 healthy controls. ''IL-1α'' ''rs1800587'', ''IL-1β'' ''rs16944'', ''CYP1a1'' '' rs1799814'', ''RANK'' ''rs35211496'', ''VDR'' ''rs2228570'', ''LRP5'' ''rs4988321'' variations are analyzed using PCR-RFLP method. Although osteoporosis is related to short height, there were no significant differences between patient and control groups. Patient group has been shown to have a lower weight than the control group. Vit-D levels on blood was found higher in patients comparing controls. This result is thought to be due to possible vitamin D treatments that patients may have taken. No significant statistical results were observed in two groups between calcium and calcitonine levels. Smoking, alcohol useage and daily sunlight intake were analyzed and no significant results were observed between these parameters, osteoporosis and bone mineral density of femoral neck, trochanter, lomber, ward and total hip areas. In our study significant relationship between rs2228570 polymorphism in VDR gene and disease was found. It was concluded that C allele in this polymorphism increases the risk of disease. No significant relationship observed between other polymorphisms and bone mineral densities of bone regions.