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Background  Osteoporosis has a multifactorial pathogenesis characterized by a combination of low bone mass and increased fragility. In our study, we focused on the effects of polymorphisms in  CER1  and  DKK1  genes, recently reported as important susceptibility genes for osteoporosis, on bone mineral density (BMD) and bone markers in osteoporotic women. Our objective was to evaluate the effect of  CER1  and  DKK1  variations in 607 postmenopausal women. The entire  DKK1  gene sequence and five selected  CER1  SNPs were amplified and resequenced to assess whether there is a correlation between these genes and BMD, early menopause, and bone turnover markers in osteoporotic patients.    Results  Osteoporotic women seem to suffer menopause 2 years earlier than the control group. The entire  DKK1  gene sequence analysis revealed six variations. There was no correlation between the six  DKK1  variations and osteoporosis, in contrast to the five common  CER1  variations that were significantly associated with BMD. Additionally, osteoporotic patients with rs3747532 and rs7022304  CER1  variations had significantly higher serum levels of parathyroid hormone and calcitonin and lower serum levels of osteocalcin and IGF-1.    Conclusions  No significant association between the studied  DKK1  variations and osteoporosis was found, while  CER1  variations seem to play a significant role in the determination of osteoporosis and a potential predictive role, combined with bone markers, in postmenopausal osteoporotic women.

CER1gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women