Alhetheli Ghadah, Al-Dhubaibi Mohammed S, Bahaj Saleh S, AbdElneam Ahmed I
Department of Dermatology, Qassim University, Buraydah, SAU.
Departments of Dermatology, Shaqra University, Dawadmi, SAU.
Cureus. 2022 Dec 19;14(12):e32715. doi: 10.7759/cureus.32715. eCollection 2022 Dec.
Psoriasis is a chronic, relapsing and inflammatory multisystemic disease with both genetic predisposition and autoimmune pathogenic traits. Several types of vitamin D receptor (VDR) polymorphisms have been investigated as a predisposing factor for psoriasis susceptibility with controversial results. However, the exact pathophysiological effect of the VDR gene on psoriasis susceptibility remains poorly understood. We aimed to determine whether VDR gene polymorphisms, specifically rs7975232 (ApaI), afford psoriasis susceptibility in a given community in Saudi Arabia. Also, to assess its possible relation with disease severity.
In a comparative case-control study comprising 53 psoriatic patients and 41 matched healthy controls, we measured serum ApaI levels, and the PCR-RFLEP technique detected ApaI genetic polymorphism (rs7975232) for both groups. Serum vitamin D level was measured in both groups.
Our results revealed that A/A genotype of ApaI was significantly more predominant in patients than controls, while A/a genotype was more common in healthy subjects. Furthermore, A allele was significantly over-represented in the patients' group compared to the controls (P≤0.001). Serum vitamin D levels were significantly higher in mild psoriatic patients than in those with moderate and severe types (P=0.002). Mild psoriatic patients with a/a genotypes have higher vitamin D levels than severe patients with A/A genotypes and A/a moderate patients (P≤0.001).
Our data indicated clearly that VDR gene polymorphism, namely ApaI, is associated with psoriasis susceptibility. Furthermore, serum vitamin D level in psoriatic patients varies among different ApaI genotypes, where it is lowest in AA genotype.
银屑病是一种慢性、复发性炎症性多系统疾病，具有遗传易感性和自身免疫致病特征。几种维生素D受体（VDR）基因多态性已被研究作为银屑病易感性的一个诱发因素，但结果存在争议。然而，VDR基因对银屑病易感性的确切病理生理作用仍知之甚少。我们旨在确定VDR基因多态性，特别是rs7975232（ApaI），是否在沙特阿拉伯的一个特定社区中赋予银屑病易感性。此外，评估其与疾病严重程度的可能关系。
在一项包括53例银屑病患者和41例匹配健康对照的比较病例对照研究中，我们测量了血清ApaI水平，并采用聚合酶链反应-限制性片段长度多态性（PCR-RFLEP）技术检测两组的ApaI基因多态性（rs7975232）。两组均测量血清维生素D水平。
我们的结果显示，ApaI的A/A基因型在患者中比对照组显著更占优势，而A/a基因型在健康受试者中更常见。此外，与对照组相比，患者组中A等位基因显著过度表达（P≤0.001）。轻度银屑病患者的血清维生素D水平显著高于中度和重度患者（P=0.002）。a/a基因型的轻度银屑病患者的维生素D水平高于A/A基因型的重度患者和A/a基因型的中度患者（P≤0.001）。
我们的数据清楚地表明，VDR基因多态性，即ApaI，与银屑病易感性相关。此外，银屑病患者的血清维生素D水平在不同的ApaI基因型之间有所不同，其中AA基因型中最低。
