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大动脉炎患者 HLA Ⅰ类和 HLA Ⅱ类等位基因的综合分析:与临床表型和预后的关系。

Comprehensive Analysis of the HLA Class I and the HLA Class II Alleles in Patients with Takayasu Arteritis: Relationship with Clinical Patterns and Prognosis.

机构信息

1Clinic of Allergy and Immunology, Clinical Center of Serbia, Belgrade, Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.

出版信息

Iran J Immunol. 2021 Dec;18(4):354-365. doi: 10.22034/IJI.2021.88846.1911.

Abstract

BACKGROUND

Takayasu arteritis (TA) is a systemic vasculitis, affecting mainly the aorta and its branches.

OBJECTIVE

To analyze the HLA class I and class II alleles in patients with TA and explore their relationship with clinical and demographic characteristics, and potential significance in prognosis.

METHODS

Twenty-five, unrelated TA patients were genotyped for HLA-A, HLA-B, HLA-C, HLA-DRB1, and the HLA-DQB1 loci. The frequencies of the HLA-A, HLA-B, and the HLA-DRB1 were compared with a control group of 1992, while the HLA-C and the HLA-DQB1 were compared with a group of 159 healthy, unrelated individuals.

RESULTS

Among TA patients, 5/25 (20%) were identified as the HLA-B52 carriers. There was a significant difference in the HLA-B52 allele frequency in the TA patients (10%) compared with the healthy controls (1.2%). Moreover, presence of the HLA-B52 was associated with significantly earlier disease onset, more severe clinical presentations, and a poorer response to treatment. The HLA-C03 was detected in 32% of patients and was present exclusively in those with a clinically mild form of the TA, indicating a putative protective effect.

CONCLUSION

These findings indicate that the HLA-B52 allele contributes to a higher susceptibility to the TA whereas the HLA-C03, can be a protective factor in the TA.

摘要

背景

Takayasu 动脉炎(TA)是一种系统性血管炎,主要影响主动脉及其分支。

目的

分析 TA 患者的 HLA Ⅰ类和Ⅱ类等位基因,并探讨其与临床和人口统计学特征的关系及对预后的潜在意义。

方法

对 25 例未经治疗的 TA 患者进行 HLA-A、HLA-B、HLA-C、HLA-DRB1 和 HLA-DQB1 基因分型。将 HLA-A、HLA-B 和 HLA-DRB1 的频率与对照组(1992 例)进行比较,HLA-C 和 HLA-DQB1 与对照组(159 例)进行比较。

结果

25 例 TA 患者中,有 5 例(20%)为 HLA-B52 携带者。TA 患者的 HLA-B52 等位基因频率(10%)明显低于健康对照组(1.2%)。此外,HLA-B52 的存在与疾病发病更早、更严重的临床表现以及对治疗反应较差有关。HLA-C03 在 32%的患者中存在,仅存在于临床轻度 TA 患者中,提示可能具有保护作用。

结论

这些发现表明,HLA-B52 等位基因增加了 TA 的易感性,而 HLA-C03 可能是 TA 的保护性因素。

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