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

Vitamin D deficiency and vitamin D receptor (<i>VDR</i>) 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. <i>VDR</i> (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, <i>p</i> = 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, <i>p</i> = 0.026). Carriage of “aT” <i>VDR</i> haplotype was significantly associated with higher BD risk (OR = 2.28, 95% = 1.14–4.56, <i>p</i> = 0.022). In conclusion, our findings suggest that <i>VDR</i> gene polymorphisms have a significant association with BD in Egyptian patients.

已有研究报道，维生素D缺乏及维生素D受体（VDR）基因多态性与自身免疫性疾病存在关联。然而，二者在白塞病（BD）与硬皮病中的作用仍未明确。本研究旨在评估埃及人群中维生素D受体（ApaI、TaqI）基因多态性与白塞病及硬皮病的相关性。本研究共纳入54例白塞病患者、30例硬皮病患者及60例健康对照受试者。采用聚合酶链反应-限制性片段长度多态性技术检测VDR基因（ApaI、TaqI）多态性。结果显示，ApaI（A/a）多态性的“a”等位基因与白塞病发病风险升高显著相关（优势比OR=2.09，95%置信区间CI=1.18~3.71，p=0.011）；而白塞病患者中TaqI “tt”基因型的频率显著低于健康对照（OR=0.35，95%CI=0.13~0.9，p=0.026）。携带“aT”型VDR单体型与白塞病发病风险升高显著相关（OR=2.28，95%CI=1.14~4.56，p=0.022）。综上，本研究结果表明，埃及人群中VDR基因多态性与白塞病存在显著关联。