Prediction of Bone Density from Vitamin D Receptor Alleles

Vitamin D receptor gene polymorphism: association with Crohn's disease susceptibility

“…The Taq I polymorphism is an A to C base substitution at codon 352 of exon 8 of VDR but this does not produce an amino acid coding change (both isoleucine). It has been shown using a VDR-luciferase reporter gene construct that the “ t ” allele may be associated with increased levels of mRNA production in vitro 11. However, other investigators using a quantitative reverse transcriptase PCR method have found no allele specific differences in VDR mRNA18 or even an association between the “ t ” allele and reduced levels of VDR mRNA 19.…”

“…The linked, commonly occurring, single nucleotide polymorphisms at the 3′ end of VDR ( Bsm I, Apa I, and Taq I)11 and the exon 2 splice site Fok I polymorphism12 have been associated with bone mineral density and osteoporosis in a number of different populations. However, these associations have not been universally replicated and the role of VDR polymorphisms in osteoporosis has been reviewed recently 13.…”

Vitamin D receptor gene polymorphisms in a group of postmenopausal Turkish women: association wıth bone mineral density

“…The associations of BMD and VDR gene polymorphism have been studied in different populations [3][4][5][6][7] . In different European populations, the Bb genotype [8][9][10] , Ff genotype 10,11 , Tt genotype 10,12 and Aa genotype 10,12 polymorphisms were found to be frequent.…”

VDRpolymorphisms are associated with bone mineral density in post-menopausal Mayan-Mestizo women

“…The vitamin D receptor (VDR) gene that encodes a nuclear hormone receptor was the first gene to be implicated in osteoporosis (Morrison et al, 1992(Morrison et al, , 1994. The VDR plays a role in regulating calcium homoeostasis through binding and nuclear translocation of 1,25(OH)2D3, affecting bone resorption and increasing calcium absorption, resulting in normal bone mineralization and re-modelling through action in both osteoblastic and osteoclastic lineage cells (Baldock et al, 2006).…”

“…Two of these are rs731236 and rs2228570 (Kurt et al, 2012;Macdonald et al, 2006;Singh et al, 2013;Zintzaras et al, 2006). rs731236 is located in exon 9 (a synonymous polymorphism) at the 3 0 -end of the gene and rs2228570 is located at the translation initiation site in exon 2 of the gene, which creates an alternative translational start site and results in a shorter isoform of the VDR (Gross et al, 1996;Morrison et al, 1994).…”