Affiliations: Department of Medical Biology, Cerrahpasa Faculty of
Medicine, Istanbul University, Turkey | Department of Internal Medicine, Faculty of Medicine,
University of 19 Mayıs, Turkey | Department of Medical Biology, Faculty of Medicine,
University of Kadir Has, Turkey | Institute for Experimental Medicine, Istanbul
University, Turkey | Department of Endocrinology and Metabolism, Faculty of
Medicine, Istanbul University, Turkey
Note: [] Corresponding author: Prof. Dr. Selma Yılmazer, Department
of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University,
Istanbul, Turkey. Tel.: +90 212 414 30 00/22032; +90 532 274 07 15; Fax: +90
212 414 30 42; E-mail: selmayilmazer@mynet.com
Abstract: 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.
Keywords: Vitamin D, osteomalacia, vitamin D receptor gene, ApaI, TaqI
