Association of VDR ApaI and TaqI Gene Polymorphisms with the Risk of Scleroderma and Behcet's Disease

Vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms have been reported in autoimmune diseases. However, their role in Behcet's disease (BD) and scleroderma remains inconclusive. Our aim was to evaluate vitamin D receptor (ApaI, TaqI) gene polymorphisms in relation to Behcet's disease and scleroderma in Egyptians. The study was conducted on 54 patients with BD, 30 scleroderma patients, and 60 healthy control subjects. VDR (ApaI, TaqI) gene polymorphisms were investigated using polymerase chain reaction-restriction fragment length polymorphism technique. The a allele of ApaI (A/a) polymorphism was significantly associated with increased BD risk (OR = 2.09, 95% CI = 1.18-3.71, p = 0.011), while the TaqI tt genotype was significantly lower in BD patients as compared to control subjects (OR = 0.35, 95% CI = 0.13-0.9, p = 0.026). Carriage of aT VDR haplotype was significantly associated with higher BD risk (OR = 2.28, 95% = 1.14-4.56, p = 0.022). In conclusion, our findings suggest that VDR gene polymorphisms have a significant association with BD in Egyptian patients.