Abstract

The vitamin D endocrine system regulates bone metabolism and calcium homeostasis as well as cellular proliferation and differentiation. Vitamin D receptor (VDR) mediates Vit-D activity, thus VDR gene polymorphisms may correlate with different diseases. This study aimed to determine the distribution of VDR gene (Taq-I and Apa-I) polymorphisms using a RFLP in unrelated normal healthy individuals of Syrian population. Allelic frequencies were 65% vs 35% and 66% vs 34% for T vs t and A vs a alleles, respectively. Genotype distribution was 36%, 58% and 6% for TT, Tt and tt and 42%, 47% and 10% for AA, Aa and aa, respectively. These results demonstrate that the frequency and distribution of the VDR polymorphisms in Syrian population are different from other populations worldwide.

Highlights

  • The vitamin D receptor (VDR) belongs to the steroid hormone receptor family and mediates the effects of 1,25-dihydroxyvitamin D (1,25(OH)2D) on gene expression (Walters, 1992)

  • 6% for TT, Tt and tt and 42%, 47% and 10% for AA, Aa and aa, respectively. These results demonstrate that the frequency and distribution of the VDR polymorphisms in Syrian population are different from other populations worldwide

  • This study demonstrates the genotypes and allele frequency of VDR gene polymorphism

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Summary

Introduction

The vitamin D receptor (VDR) belongs to the steroid hormone receptor family and mediates the effects of 1,25-dihydroxyvitamin D (1,25(OH)2D) on gene expression (Walters, 1992). The VDR gene is distributed on chromosome 12q12-q14. The 3′ untranslated region of the VDR gene includes. The potential effects of VDR polymorphisms on disease susceptibility have been investigated (Zmuda et al, 2000). These effects could be altered by the differences in race and diet (Valdivielso and Fernandez, 2006). Most of the polymorphisms used have an unknown functional effect. This effect could be due to a linkage to truly

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