Introduction: Association studies of vitamin D receptor (VDR) polymorphisms and risk of type 1 diabetes (T1D) have produced inconsistent results in different populations, pointing to contribution of additional genetic variants and environmental factors. In this study we investigated the association between four VDR polymorphisms and susceptibility to T1D in Crete, an island with homogenous population and considerably low incidence of T1D.
Results and discussion: We genotyped 100 patients with T1D and 96 controls for the FokI (rs10735810), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) single nucleotide polymorphisms by polymerase chain reaction and restriction fragment length polymorphism analysis. In all 4 polymorphisms tested, distribution of VDR genotype frequencies differed significantly between patients and controls. Individuals with T1D presented less commonly with FokI F allele (p=0.008; OR 0.52, 95% CI 0.32 to 0.85) and BsmI B allele (p=0.042; OR 0.65, 95% CI 0.44 to 0.97) and more commonly with ApaI A allele (p=0.024; OR 1.61, 95% CI 1.07 to 2.41) and TaqI T allele (p=0.0001; OR 2.24, 95% CI 1.49 to 3.36).
Conclusion: Our findings derived from a homogenous southern European population with low incidence of T1D suggest that FokI, BsmI, ApaI, and TaqI polymorphisms of the VDR gene are associated with T1D prevalence.