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基因多态性可能参与慢性自发性自身免疫性荨麻疹的发病机制。

Gene Polymorphisms Presumably Participate in the Pathogenesis of Chronic Spontaneous Autoreactive Urticaria.

机构信息

Department of Internal Diseases and Allergology, Institute of Medical Sciences, University of Opole, Opole, Poland.

Department of Internal Diseases, Allergology and Clinical Immunology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.

出版信息

J Interferon Cytokine Res. 2020 Oct;40(10):497-500. doi: 10.1089/jir.2020.0103.

Abstract

Recent studies underline a potential role of autoimmune and genetic disturbances in this disorder pathogenesis. Variants in genes related to inflammatory processes may possibly predispose to chronic spontaneous urticaria (CSU) occurrence. The objective of this study was to search for an association of genes polymorphisms with the pathogenesis of CSU. The examined group consisted of 153 unrelated chronic spontaneous autoreactive urticaria patients. The control group consisted of 104 unrelated healthy volunteers. In all studied subjects, rs1304037 and rs180058 polymorphisms were examined. The Urticaria Activity Score was used to assess disease intensity. The age of disease onset was also analyzed. Statistically significantly higher prevalence of rs1304037 TT genotype and T allele among CSU was proved. Similarly, the prevalence of rs1800587 GG genotype and G allele was statistically significantly higher in the CSU group. Haplotype combination rs1304037C/rs1800587G was statistically significantly more frequent in CSU, whereas rs1304037C/rs1800587A revealed statistically significantly less frequent occurrence in CSU. We did not observe any relationship between genotypes and the disease severity or age of disease onset. We are the first to suggest a significant role of gene polymorphisms in the susceptibility to CSU. This observation may lead to a better pathogenesis understanding and more effective treatment. We recommend further studies on other polymorphisms in chronic urticaria to analyze the role of the genetic mechanisms in the pathogenesis of this disorder.

摘要

最近的研究强调了自身免疫和遗传紊乱在这种疾病发病机制中的潜在作用。与炎症过程相关的基因变异可能使慢性自发性荨麻疹(CSU)更容易发生。本研究的目的是寻找基因多态性与 CSU 发病机制的关联。研究组包括 153 名无亲缘关系的慢性自发性自身反应性荨麻疹患者。对照组由 104 名无亲缘关系的健康志愿者组成。在所有研究对象中,都检查了 rs1304037 和 rs180058 多态性。使用荨麻疹活动评分来评估疾病的严重程度。还分析了疾病发病年龄。证明了 rs1304037 TT 基因型和 T 等位基因在 CSU 中具有统计学显著更高的流行率。同样,rs1800587 GG 基因型和 G 等位基因在 CSU 组中的流行率也具有统计学显著更高。CSU 中 rs1304037C/rs1800587G 的单体型组合频率统计学显著更高,而 CSU 中 rs1304037C/rs1800587A 的发生率统计学显著更低。我们没有观察到基因型与疾病严重程度或发病年龄之间存在任何关系。我们是第一个提出基因多态性在 CSU 易感性中具有重要作用的人。这一观察结果可能会导致对发病机制的更好理解和更有效的治疗。我们建议对慢性荨麻疹中的其他多态性进行进一步研究,以分析遗传机制在该疾病发病机制中的作用。

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