Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

Abstract

In this study, ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphisms in postmenopausal women were compared with lumbar vertebra and femoral neck BMD values. In conclusion, it was designated that PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group. Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a strong genetic component. Several candidate gene polymorphisms have been implicated in the regulation of this process. In this study, the relationship among BMD values of lumbar vertebra and femoral neck and ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphism in 126 postmenopausal women (30 normal, 46 osteopenic, and 50 osteoporotic in terms of bone mineral density) was researched. The ERα gene PvuII and XbaI genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) whereas the COL1A1 gene Sp1 genotype was determined by real-time PCR. BMDs at the lumbar spine (vertebrae L1-L4) and hip (femur neck) were measured by dual-energy X-ray absorptiometry. According to our study results, the significant difference was found in women with normal, osteopenic, and osteoporotic bone mass in terms of ERα gene PvuII polymorphism "pp" genotype frequency. The "pp" genotype frequency was significantly lower in women with normal bone mass. Average lumbar vertebra BMD value of women with "PP" genotype was significantly higher than that with "pp" genotype. On the other hand, in the evaluations on ERα gene XbaI polymorphism and COL1A1 gene Sp1 polymorphism, it was noted that there was no difference in terms of average BMD values, genotype, and allele frequencies among groups. In conclusion, it was designated that ERα gene PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group.