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评估伊拉克寻常型天疱疮患者的基因多态性(rs17315309, rs2304365)。

Assessing gene polymorphisms (rs17315309, rs2304365) in Iraqi patients with Pemphigus vulgaris.

机构信息

Department of Oral Medicine, College of Dentistry, University of Baghdad, Baghdad, Iraq.

Department of Oral Diagnosis, College of Dentistry, University of Baghdad, Baghdad, Iraq.

出版信息

J Med Life. 2024 Jan;17(1):81-86. doi: 10.25122/jml-2023-0227.

Abstract

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.

摘要

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。

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