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约旦患者白细胞介素基因与斑秃之间的遗传关联。

Genetic Association between Interleukin Genes and Alopecia Areata in Jordanian Patients.

作者信息

Eitan Laith N Al, Alghamdi Mansour A, Al Momani Rawan O, Aljamal Hanan A, Elsy Bijo, Mohammed Heitham M, Abdalla Asim M

机构信息

Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.

Department of Anatomy, College of Medicine, King Khalid University, Abha, Saudi Arabia.

出版信息

Oman Med J. 2022 Sep 30;37(5):e421. doi: 10.5001/omj.2022.92. eCollection 2022 Sep.

Abstract

OBJECTIVES

Alopecia areata (AA) is a multifactorial autoimmune disease with a strong genetic predisposition. A variety of genes involved in immunity and inflammatory responses, such as cytokines, are suspected to increase the risk of developing AA. In which, different interleukin (IL) genes that associated with several autoimmune diseases and AA in varied populations. The objective of this study was to investigate the possible genetic association of AA with ten variants of single nucleotide polymorphism (SNP) in and genes among Jordanian patients.

METHODS

In this case-control study, peripheral blood samples of 152 Jordanian AA patients and 150 controls (total of 302 subjects) were collected, genomic DNA extracted and genotyped, based on which their allele and genotype frequencies were assessed.

RESULTS

In the rs11073001 SNP located in the exon region of the gene, the A allele was distributed more frequently in AA patients (0.01). A difference was found between the patients and the controls for the rs17875491 SNP in the promoter region of the gene (0.04). The mean age of onset was 27.3±12.6 with male predominance. Most patients (68.4%) were asymptomatic but some reported experiencing associated sensations before the hair loss episodes. The patchy patterns of alopecia were the most common (90.3%). Nail changes were found in 7.3% of the patients.

CONCLUSIONS

The findings support the hypothesis of the involvement of gene in the etiology of AA. Moreover, it emphasizes the variations in the genetic component of AA, as well as the clinical phenotypes among different ethnic groups.

摘要

目的

斑秃(AA)是一种具有强烈遗传易感性的多因素自身免疫性疾病。多种参与免疫和炎症反应的基因,如细胞因子,被怀疑会增加患AA的风险。其中,不同的白细胞介素(IL)基因在不同人群中与几种自身免疫性疾病和AA相关。本研究的目的是调查约旦患者中AA与IL6和IL10基因的10个单核苷酸多态性(SNP)变体之间可能的遗传关联。

方法

在这项病例对照研究中,收集了152名约旦AA患者和150名对照(共302名受试者)的外周血样本,提取基因组DNA并进行基因分型,在此基础上评估其等位基因和基因型频率。

结果

在位于IL6基因外显子区域的rs11073001 SNP中,A等位基因在AA患者中分布更频繁(0.01)。在IL10基因启动子区域的rs17875491 SNP中,患者与对照之间存在差异(0.04)。发病的平均年龄为27.3±12.6岁,以男性为主。大多数患者(68.4%)无症状,但一些患者报告在脱发发作前有相关感觉。斑秃的斑片状模式最为常见(90.3%)。7.3%的患者有指甲改变。

结论

这些发现支持IL6基因参与AA病因的假说。此外,它强调了AA遗传成分的变异以及不同种族群体之间的临床表型。

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