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Vitamin D receptor, oestrogen receptor-alpha and calcium-sensing receptor genotypes, bone mineral density and biochemical markers in Paget's disease of bone

Donath, J; Speer, G; Poor, G; Gergely, P; Tabak, A; Lakatos, P; (2004) Vitamin D receptor, oestrogen receptor-alpha and calcium-sensing receptor genotypes, bone mineral density and biochemical markers in Paget's disease of bone. RHEUMATOLOGY , 43 (6) 692 - 695. 10.1093/rheumatology/keh162.

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Abstract

Objectives. The significance of genetic polymorphisms in the development of Paget's disease of bone is unclear at present.Methods. We analysed the BsmI polymorphism of the vitamin D receptor (VDR) gene, the PvuII and XbaI polymorphisms of the oestrogen receptor-alpha (ERalpha) gene, and the A986S polymorphism of the calcium-sensing receptor (CaSR) gene in 69 pagetic patients and 120 healthy subjects. We also examined the relationship of these polymorphisms with lumbar spine and femoral neck BMD as well as with biochemical parameters (serum alkaline phosphatase, osteocalcin and parathyroid hormone) in Paget's disease.Results. The XbaI and PvuII genotype distributions of the ERalpha gene were significantly different between patients with Paget's disease and control subjects (P<0.001). Also, the CaSR A986S genotype frequency was significantly different between pagetic patients and controls (P<0.01). No significant effect of gene polymorphisms on BMD or biochemical parameters of bone turnover was observed.Conclusion. Our results suggest that the ERalpha PvuII/XbaI and CaSR A986S polymorphisms may contribute to genetic susceptibility to Paget's disease. However, further studies are required to investigate the underlying pathomechanism and to replicate the associations.

Type: Article
Title: Vitamin D receptor, oestrogen receptor-alpha and calcium-sensing receptor genotypes, bone mineral density and biochemical markers in Paget's disease of bone
DOI: 10.1093/rheumatology/keh162
Keywords: Paget's disease, genetic polymorphism, oestrogen receptor gene, vitamin D receptor gene, calcium-sensing receptor gene, GENE A986S POLYMORPHISM, FAMILIAL AGGREGATION, WOMEN, ASSOCIATION, OSTEOPOROSIS, CYTOKINES
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Epidemiology and Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Epidemiology and Health > Epidemiology and Public Health
URI: http://discovery.ucl.ac.uk/id/eprint/108812
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