Association of VDR ApaI and TaqI Gene Polymorphisms with the Risk of Scleroderma and Behçet’s Disease

ABSTRACT

Vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms have been reported in autoimmune diseases. However, their role in Behçet’s disease (BD) and scleroderma remains inconclusive. Our aim was to evaluate vitamin D receptor (ApaI, TaqI) gene polymorphisms in relation to Behçet’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.

KEYWORDS:

• Behçet’s disease
• gene polymorphism
• scleroderma
• VDR

Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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