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波兰患者自身免疫性肾上腺功能不全和1型糖尿病中Toll样受体-3基因的多态性

Polymorphisms of the Toll-Like Receptor-3 Gene in Autoimmune Adrenal Failure and Type 1 Diabetes in Polish Patients.

作者信息

Fichna Marta, Żurawek Magdalena, Fichna Piotr, Januszkiewicz-Lewandowska Danuta, Ruchała Marek, Nowak Jerzy

机构信息

Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.

出版信息

Arch Immunol Ther Exp (Warsz). 2016 Feb;64(1):83-7. doi: 10.1007/s00005-015-0360-z. Epub 2015 Aug 30.

Abstract

Infectious agents are plausible environmental triggers for autoimmunity in genetically susceptible individuals. Polymorphic variants of genes implicated in innate immunity may affect immune responses and hence promote auto-aggressive reactions. Genes such as Toll-like receptor-3 (TLR3), which participate in recognizing conserved foreign molecules and mounting the first line of defence against viral infections, are promising functional candidates in autoimmune conditions. We investigated the association of the TLR3 variants, rs13126816 and rs3775291, with the autoimmune endocrine disorders, Addison's disease (AD) and type 1 diabetes (T1D) in the Polish population. The study comprised 168 AD patients, 524 individuals with T1D and 592 healthy controls. Genotyping was performed by real-time PCR. Distribution of the TLR3 genotypes and alleles did not reveal significant differences between patients and controls (p > 0.05). No effect on age at disease onset was found in affected cohorts. This analysis does not support an association between TLR3 variants and the risk for autoimmune destruction of the adrenal cortex and beta cells. However, innate immunity merits further studies in autoimmune endocrine conditions.

摘要

在基因易感性个体中,感染因子可能是自身免疫的合理环境触发因素。参与先天免疫的基因多态性变体可能影响免疫反应,从而促进自身攻击反应。诸如Toll样受体3(TLR3)等基因,参与识别保守的外来分子并对病毒感染发起第一道防线,是自身免疫性疾病中有前景的功能候选基因。我们研究了TLR3变体rs13126816和rs3775291与波兰人群自身免疫性内分泌疾病、艾迪生病(AD)和1型糖尿病(T1D)的关联。该研究包括168例AD患者、524例T1D患者和592例健康对照。通过实时PCR进行基因分型。TLR3基因型和等位基因的分布在患者和对照之间未显示出显著差异(p>0.05)。在受影响的队列中未发现对发病年龄有影响。该分析不支持TLR3变体与肾上腺皮质和β细胞自身免疫性破坏风险之间的关联。然而,先天免疫在自身免疫性内分泌疾病中值得进一步研究。

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