Investigation of bone mineral density with COL1A1, CTR, VDRF, VDRB, ESR1X and ESR1P genes polymorphisms

Osteoporosis is a common disorder characterized by low bone mass. It has become a major public health problem through the prolongation of average life span. Osteoporosis is considered a multi-factorial disease in which both genetic and environmental factors could play a role on the formation of the disease. Because of effects of various functions, genes that predispose to the formation of osteoporosis and polymorphisms observed may be VDRF, VDRB, COL1A1, ESR1X, ESR1P and CTR.Lumbar spine (L1-L4) and femoral neck bone mineral density of the individuals [49 man and 139 woman (118 postmenopausal and 21 premenopausal), total 188 persons] included in the study were measured by the dual X-ray absorptiometry (DEXA) method. Patient?s DNA was isolated from peripheral blood by a standard procedure and PCR amplification was performed. Imaging process was based on clinical chip microarrays tube method, and Clinical Arrays® MetaBone kits used for the analyses. Analyses were completed after the reading. Genotypic structure of each patient's in terms of six genes was identified. Relationships between BMD values of lumbar spine and femur with genes (VDRF, VDRB, COL1A1, ESR1X, ESR1P and CTR) polymorphisms, and relationships between BMD values of lumbar spine and femur with other factors (body mass index, age, gender, smoking, nutrition, sport etc.) were investigated. Evaluation of the results was firstly performed in whole group (188 persons), then in postmenopausal women group (118 persons) and in man group (49 persons), respectively.Statistical analyses of results from 188 persons indicated that VDRB and VDRF gene polymorphisms have major (p=0.013) and minor (p=0.082) effects on femur bone mineral density, respectively, while other genes was not effected the bone mineral density. Spine bone mineral density was not affected significantly by all genes polymorphisms. Patient age [femur (p=0.000; spinal p=0.004)], diet [femur (p=0.019; spinal p=0.011)] and body mass index [femur (p=0.000; spinal p=0.000)] were significantly effected on femoral and spinal bone density. Factors of osteoporotic patient in the family and gender were effected spinal bone density significantly, but they have no any effect on femoral bone density.Statistical analyses of results from 118 postmenopausal woman indicated that VDRF (p=0.100) and CTR (p=0.068) gene polymorphisms have minor effect on femoral BMD, and only CTR (p=0,062) gene polymorphism have minor effect on lumbar spine BMD in postmenopausal women. None of other genes studied in this research have not any effect on both spinal and femoral BMD. Age (p=0.000), body mass index (p=0.001), alcohol intake (p=0.012) and diet (p=0.020) have significant effect on femoral BMD. Age (p=0.003) and body mass index (p=0.000) have significant effect on spinal BMD.Statistical analyses of results from 49 man indicated that only VDRB gene polymorphisms was significantly (p=0.033) effected femur BMD. Spine bone mineral density was not affected significantly by other genes including VDRB gene polymorphisms. Patient age (p=0.029) and smoking (p=0.050) has significant effect on femoral bone density. Occurrence of osteoporotic patient in the family has effect on spinal bone density, but not femoral bone density.Osteoporosis is a multi-factorial disease and many genetic and non-genetic risk factors contribute to the development of osteoporosis. Early detection of a genetic predisposition to osteoporosis allows appropriating prophylaxis, and delaying and/or limiting unfavorable changes in the bone tissue.Key Words: 1. COL1A1 Gene 2. CTR Gene 3. ESR Gene 4. Osteoporosis 5. VDR Gene