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Rheumatology Advance Access published online on March 2, 2004
Rheumatology, doi:10.1093/rheumatology/keh162
Rheumatology © British Society for Rheumatology 2004; all rights reserved
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© 2004 British Society for Rheumatology; all rights reserved

Original Papers

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

J. Donáth 1*, G. Speer 2, G. Poór 1, P. Gergely Jr1, A. Tabák 2, and P. Lakatos 2

1 National Institute of Rheumatology and Physiotherapy, Budapest, Hungary
2 Semmelweis University, Faculty of Medicine, 1st Department of Medicine, Budapest, Hungary

* Corresponding author. E-mail: orfireuma{at}axelero.hu.

Received 15 September 2003 ; accepted 21 January 2004

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} (ER{alpha}) 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 ER{alpha} 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 ER{alpha} 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.

Key words: Paget's disease, Genetic polymorphism, Oestrogen receptor gene, Vitamin D receptor gene, Calcium-sensing receptor gene.
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