Association of Vitamin D Receptor Ggene Ppolymorphisms and Type 1 diabetes in Egyptian Population.

Abstract

The human vitamin D receptor (VDR) gene is located on chromosome 12q12–q14, and four common nucleotide polymorphisms have been identified. Several studies have found a relationship between polymorphisms of the (VDR) gene and development of type 1 diabetes (T1DM). The association of VDR polymorphisms and susceptibility to T1DM in the Egyptian population were examined in 60 individuals with type 1 diabetes and compared with healthy 60 persons. Single nucleotide polymorphisms (SNP) genotyping was performed using PCR and BsmI and FokI, by using two techniques, allele specific PCR technique and restriction fragment length polymorphism – PCR (RFLP-PCR). Data were analyzed using the chi square. The result approved that the genotype TA in SNP FokI was risk factor among type 1 diabetes mellitus patients combination which conferred strongest susceptibility to T1DM (P=0.004) while the SNP BsmI did not showed any significance between cases as compared with control (P=0.493). The results of the current study indicated that VDR polymorphisms are associated with increased risk of T1DM in the Egyptian population. The difference in the association of the aforementioned SNPs variants with T1DM among different populations may be attributed to the presence of multiple susceptibility alleles.

Keywords

• Vitamin D receptor, Genotype, Type 1 diabetes, Genetic susceptibility, SNP, BsmI, FokI