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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.

DOI:10.25122/jml-2023-0227
PMID:38737652
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11080500/
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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本文引用的文献

1
Clinical course and outcomes of pemphigus vulgaris and foliaceus: A retrospective study using a nationwide database in Japan.寻常型天疱疮和落叶型天疱疮的临床病程及结局:一项使用日本全国性数据库的回顾性研究。
J Dermatol. 2023 Feb;50(2):212-221. doi: 10.1111/1346-8138.16641. Epub 2022 Nov 24.
2
Desmogleins 1, 3, and E-cadherin immunohistochemical expression within mucocutaneous pemphigus vulgaris.黏膜类天疱疮中桥粒芯糖蛋白 1、3 和 E-钙黏蛋白的免疫组化表达。
Pan Afr Med J. 2022 Jul 7;42:186. doi: 10.11604/pamj.2022.42.186.35429. eCollection 2022.
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A clinical and demographic analysis of oral pemphigus vulgaris: A retrospective cross-sectional study from 2001 to 2021.寻常型口腔天疱疮的临床与人口统计学分析:一项2001年至2021年的回顾性横断面研究
Health Sci Rep. 2022 Sep 13;5(5):e832. doi: 10.1002/hsr2.832. eCollection 2022 Sep.
4
ST18 affects cell-cell adhesion in pemphigus vulgaris in a tumour necrosis factor-α-dependent fashion.ST18 通过肿瘤坏死因子-α 依赖的方式影响寻常型天疱疮中的细胞-细胞黏附。
Br J Dermatol. 2021 Jun;184(6):1153-1160. doi: 10.1111/bjd.19679. Epub 2021 Jan 4.
5
Estrogen, estrogen-like molecules and autoimmune diseases.雌激素、类雌激素分子与自身免疫性疾病。
Autoimmun Rev. 2020 Mar;19(3):102468. doi: 10.1016/j.autrev.2020.102468. Epub 2020 Jan 10.
6
Oral Lesions in Autoimmune Bullous Diseases: An Overview of Clinical Characteristics and Diagnostic Algorithm.自身免疫性大疱性皮肤病的口腔损害:临床特征和诊断方法概述。
Am J Clin Dermatol. 2019 Dec;20(6):847-861. doi: 10.1007/s40257-019-00461-7.
7
High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting.高通量熔解曲线分析筛查天疱疮 18 型基因功能性风险变异:开启其在临床应用中价值的相关探讨。
Exp Mol Pathol. 2019 Jun;108:57-63. doi: 10.1016/j.yexmp.2019.03.009. Epub 2019 Mar 26.
8
The association between ST18 gene polymorphism and severe pemphigus disease among Iranian population.伊朗人群中 ST18 基因多态性与严重天疱疮病的关联。
Exp Dermatol. 2018 Dec;27(12):1395-1398. doi: 10.1111/exd.13778. Epub 2018 Oct 22.
9
The Genetics of Pemphigus Vulgaris.寻常型天疱疮的遗传学
Front Med (Lausanne). 2018 Aug 14;5:226. doi: 10.3389/fmed.2018.00226. eCollection 2018.
10
Incidence of pemphigus vulgaris and pemphigus foliaceus in North-East Poland (Podlaskie Province) - a 15-year (2001-2015) bicentric retrospective study.波兰东北部(波德拉谢省)寻常型天疱疮和落叶型天疱疮的发病率:一项 15 年(2001-2015 年)的双中心回顾性研究。
Int J Dermatol. 2018 Aug;57(8):933-937. doi: 10.1111/ijd.14078. Epub 2018 Jun 5.