Molecular analysis of vitamin D receptor gene polymorphisms rs2228570 (FokI) and rs1544410 (BsmI) in patients with Behcet's disease

Abstract

Recent studies have shown vitamin D3 has immune-modulatory effect.The functional differences in the immune-modulatory action of vitamin D is mediated via the vitamin D receptor (VDR) gene polymorphisms. In this study, we assessed the association between the two common polymorphisms of VDR gene (FokI, BsmI) and Behcet's Disease (BD), A chronic inflammatory and multisystem disorder. Using polymerase chain reaction and restriction fragment length polymorphism, we analyzed the prevalence of the common polymorphisms of VDR gene in patients with BD (n=50) and controls (n=50) in an Iranian Azari population. A significant difference was found for the FokI polymorphism between the BD and the control group. The f allele frequency of 26% was present in BD patients compared to 13% of controls and was significantly associated with BD (P = 0.03); (OR=O.42, 95% CI=0.2-0.88). There was no significant difference in the polymorphisms BsmI between the case and control groups. Accordingly, the FokI variant remains a candidate functional polymorphism; the f allele isoform interacts with the basal transcription factor HB less efficiently than does the F allele isoform, providing a possible mechanism for the reduced transactivation associated (connected) with this allele. The association between VDR polymorphisms and autoimmune diseases varies across different ethnic population. Results of our studies could be followed by further studies with more patients to discover other relationships.