CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women
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PRIMARY RESEARCH
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CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women Theodora Koromila1, Panagiotis Georgoulias2, Zoe Dailiana3, Evangelia E Ntzani4, Stavroula Samara3, Chris Chassanidis3, Vassiliki Aleporou-Marinou1 and Panagoula Kollia1*
Abstract 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. Keywords: CER1, DKK1, SNPs, Bone markers, Fracture, Menopause
Introduction Osteoporosis is a complex multifactorial disease characterized by low bone mass with a consequent increase in bone fragility, especially in the hips, spine, and wrist [1]. According to evidence arising from large observational studies [2,3] that is already part of the World Health Organization (WHO) and European guidelines for the management of osteoporosis, the clinical significance of osteoporosis is its established association with fracture risk, which is also mediated by a number of other epidemiological and clinical factors [4]. Apart from these traditional risk factors and due to a knowledge gap * Correspondence: [email protected] 1 Laboratory of Human Genetics, Department of Genetics & Biotechnology, Faculty of Biology, National and Kapodistrian University of Athens, Athens 15701, Greece Full list of author information is available at the end of the article
regarding fracture susceptibility, various bone-related biomarkers have also been proposed as potential fracture risk factors [5,6]. Several bone markers are measured in the serum in order to evaluate the bone turnover and to predict the fracture risk in elderly women [7,8]. The
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