Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behçet's disease in Tunisians

Objectives: Reports of immunomodulating effects of vitamin D suggest a need for examining allele and genotype frequencies of the vitamin D nuclear receptor gene (VDR) in patients with autoimmune diseases. T-helper-1 (Th1) counts in peripheral blood are increased in both rheumatoid arthritis (RA) and Behçet's disease (BD). We studied VDR polymorphisms in patients with these two diseases in Tunisia. Methods: In 108 patients with RA, 131 patients with BD, and 152 controls, we studied FokI and BsmI VDR polymorphisms, using the restriction fragment length polymorphism technique. Results: The FokI polymorphism alleles and genotype were significantly more common in the RA group than in the controls (P= 0.001 and P= 0.005, respectively). The FokI F allele and F/F genotype were significantly associated with BD (P= 0.0003 and P= 0.002, respectively). Furthermore, in the group with BD, the FokI polymorphism was significantly associated with the presence of vascular manifestations (P= 0.006). In patients with RA, the FokI polymorphism was significantly associated with female gender (P= 0.003). No significant associations were found between the Bsm1 polymorphism and RA or BD. Conclusion: The VDR F allele is associated with RA and BD in Tunisians. © 2011 Société française de rhumatologie.