Clin Osteol 2010; 15(4): 156-164

ESR, CALCR and VDR gene polymorphisms and their relation to bone mineral density, bone turnover markers and incidence of fractures in Slovak osteoporotic womenReview articles

D. Galbavý, R. Omelka, M. Bauerová, O. Hunák

Osteoporosis is a disease characterised by reduced bone mineral density (BMD) and microarchitectural deterioration of bone tissue with an increased fracture risk. Genetic factors play an important role in the pathogenesis of osteoporosis. The estrogen receptor (ESR), vitamin D receptor (VDR) and calcitonin receptor (CALCR) are proteins which mediate hormonal action in target tissues. Bone re­ sorption and formation are caused by hormones through their receptors on osteoblasts and osteoclasts. Therefore, possible variability in the ESR, VDR and CALCR genes could play a role in variability of BMD followed by variability in fracture risk. The purpose of this study was to evaluate effects of the PvuII and XbaI polymorphisms in the ESR gene, AluI polymorphism in the CALCR gene and FokI polymorphism in the VDR gene on variability of femoral and lumbar BMD, as well as circulating bone alkaline phosphatase (ALP; formation marker), osteocalcin (OC; formation marker), p-crosslaps (CTx; resorption marker) and fracture incidence in 121 Slovak women with osteoporosis (63.4 ± 7.5 years). The subjects were selected according to strict inclusion criteria. Genetic polymor­ phisms were detected by the PCR-RFLP method. The differences between the genotypes were analyzed by the GLM procedure and covariance analysis after correction of the measurements for age and BMI. The frequencies of fractures were tested using the chi-squa­ re test. We found a significant effect of the ESR/pp genotype on OC (p=0.016), femoral (p=0.001) and lumbar (p = 0.041) BMD and frac­ ture incidence (p = 0.001). In VDR/ff, there was a significant effect on ALP (p = 0.019) and CTx (p = 0.045). The ESR/XbaI and CALCR/AluI polymorphisms did not significantly affect any of the analyzed markers. The analysis of associations between candida­ te genes and BMD as well as bone-related biochemical markers can contribute to more detailed information about molecular back­ ground of bone remodelling and loss. The results could also be applicab

Keywords: osteoporosis, bone mineral density, fracture, candidate genes

Published: December 11, 2010  Show citation

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Galbavý D, Omelka R, Bauerová M, Hunák O. ESR, CALCR and VDR gene polymorphisms and their relation to bone mineral density, bone turnover markers and incidence of fractures in Slovak osteoporotic women. Osteologický bulletin. 2010;15(4):156-164.
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