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Disease Markers
Volume 21, Issue 4, Pages 191-197

Polymorphisms at the Ligand Binding Site of the Vitamin D Receptor Gene and Osteomalacia

Duygu Gezen Ak,1 Hakkí Kahraman,2 Erdinç Dursun,1 Belgin Süsleyici Duman,3 Nevin Erensoy,4 Faruk Alagöl,5 Refik Tanakol,5 and Selma Yılmazer1

1Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Turkey
2Department of Internal Medicine, Faculty of Medicine, University of 19 Mayıs, Turkey
3Department of Medical Biology, Faculty of Medicine, University of Kadir Has, Turkey
4Institute for Experimental Medicine, Istanbul University, Turkey
5Department of Endocrinology and Metabolism, Faculty of Medicine, Istanbul University, Turkey

Received 5 January 2006; Accepted 5 January 2006

Copyright © 2005 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Vitamin D receptor (VDR) gene polymorphisms have been suggested as possible determinants of bone mineral density (BMD) and calcium metabolism. In this study, our aim was to determine whether there is an association between VDR gene polymorphism and osteomalacia or not. We determined ApaI and TaqI polymorphisms in the vitamin D receptor gene in 24 patients with osteomalacia and 25 age-matched healthy controls. Serum calcium, phosphorus, ALP, PTH, 25OHD levels were also examined. We used PCR and RFLP methods to test for an association between osteomalacia and polymorphisms within, intron 8 and exon 9 of the VDR gene. When the control and patients were compared for their ApaI and TaqI genotypes there was no relationship between VDR gene allelic polymorphisms and osteomalacia. Whereas a nearly significant difference for A allele was found in the allellic distribution of the patients (p = 0.08). Also no association between biochemical data and VDR gene polymorphisms was observed.