Department of Oral Medicine, College of Dentistry, University of Baghdad, Baghdad, Iraq.
Department of Oral Diagnosis, College of Dentistry, University of Baghdad, Baghdad, Iraq.
J Med Life. 2024 Jan;17(1):81-86. doi: 10.25122/jml-2023-0227.
Pemphigus vulgaris (PV) is a potentially fatal autoimmune disease characterized by blistering of the skin, mucous membranes, and oral cavity. Genetics are implicated in its etiology, with the gene identified as a potential risk factor for pemphigus in certain populations, suggesting its role as a novel molecular target for therapeutic intervention. This study aimed to detect single nucleotide polymorphisms (SNPs) rs17315309 A/G and rs2304365 C/G in the gene among Iraqi/Arabic patients with PV. A total of 90 Iraqi subjects participated in this study, including 45 patients diagnosed with PV and 45 healthy controls. SNP analysis was performed using High-Resolution Melt Analysis (HRMA) with Eva Green I Dye. For SNP rs17315309 A/G, the distribution of heterozygous genotypes showed highly significant differences between the patient and healthy groups ( = 0.005), with the mutant G-allele being significantly more prevalent in patients than in the healthy group ( = 0.001). In contrast, for SNP rs2304365 C/G, the distribution of heterozygous and mutant genotypes did not differ significantly between patients and healthy individuals ( = 0.8 and = 0.3, respectively), with the mutant G-allele also showing no significant difference ( = 0.4). Our data indicate a significant association between PV and the rs17315309 A/G SNP in the gene among the Iraqi population of Arabic origin. However, no association was found between patients with PV and the rs2304365 C/G SNP in the same gene.
寻常型天疱疮(PV)是一种潜在致命的自身免疫性疾病,其特征为皮肤、黏膜和口腔起疱。遗传学与其发病机制有关,基因被确定为某些人群中天疱疮的潜在危险因素,表明其作为治疗干预的新型分子靶标。本研究旨在检测伊拉克/阿拉伯语 PV 患者基因中的单核苷酸多态性(SNP)rs17315309 A/G 和 rs2304365 C/G。共有 90 名伊拉克受试者参与了这项研究,包括 45 名确诊为 PV 的患者和 45 名健康对照者。使用 Eva Green I 染料的高分辨率熔解分析(HRMA)进行 SNP 分析。对于 SNP rs17315309 A/G,杂合基因型的分布在患者和健康组之间表现出高度显著差异(= 0.005),突变 G-等位基因在患者中明显比健康组更为常见(= 0.001)。相比之下,对于 SNP rs2304365 C/G,患者和健康个体之间杂合和突变基因型的分布没有显著差异(= 0.8 和= 0.3),突变 G-等位基因也没有显著差异(= 0.4)。我们的数据表明,在伊拉克阿拉伯人群中,PV 与基因中的 rs17315309 A/G SNP 之间存在显著关联。然而,在同一基因中,PV 患者与 rs2304365 C/G SNP 之间没有关联。