巴西白塞病患者 HLA-B*51 及其主要亚型。

HLA-B*51 and its main subtypes in Brazilian patients with Behçet's disease.

机构信息

Rheumatology Division, Department of Medicine, Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo, Brazil.

Fleury Group, Research and Development, São Paulo, Brazil.

出版信息

Clin Exp Rheumatol. 2020 Sep-Oct;38 Suppl 127(5):53-59. Epub 2020 Oct 7.

PMID:33124572

Abstract

OBJECTIVES

This study aimed to evaluate the frequency of HLA-B*51 and its subtypes in Brazilian patients with Behçet's disease (BD) and healthy controls (HC) and to assess possible associations with disease manifestations.

METHODS

A cross-sectional study with sequential BD patients and HC. HLAB51 presence was determined by sequence-specific polymerase chain reaction (SSP-PCR) and HLA-B51 subtypes by the Sanger sequencing method.

RESULTS

Eighty-three BD patients and 258 HC were evaluated. HLA-B51 was found in 30.1% of DB patients and in 15.5% of HC (p=0.003). The most prevalent subtypes in DB patients were HLA-B51:01 (60.0%), HLA-B51:08 (20.0%), HLA-B51:22 (8.0%), HLAB* 51:29 (8.0%) and HLA-B51:02 (4.0%), while HLA-B51:01 (77.5%) and HLA-B51:55 (7.5%) were the most prevalent in HC. HLA-B51 was less frequently found in patients with neurologic involvement (8.0% vs. 29.3%; p=0.034) while HLAB51:01 was more observed in patients with ocular involvement (93.3% vs. 60.3%; p=0.014). No BD patient with neurologic or vascular involvement presented HLA-B51:01. HLAB51:08 was more frequent in patients with vascular manifestations (60.0% vs. 15.4%; p=0.012). In multivariate analysis, HLA-B51 was an independent risk factor for BD (OR=2.410; 95%CI: 1.332-4.361; p=0.004) and HLA-B*51:08 had an independent association with vascular manifestations of BD (OR = 14.843; 95%CI: 1.550 - 142.115; p=0.019).

CONCLUSIONS

The prevalence of HLAB51 is higher in Brazilian BD patients compared to HC, and it is a risk factor for BD. The HLA-B51:08 subtype was independently associated with vascular manifestations of BD.

摘要

目的

本研究旨在评估 HLA-B*51 及其亚型在巴西白塞病（BD）患者和健康对照（HC）中的频率，并评估其与疾病表现的可能关联。

方法

这是一项横断面研究，纳入了连续的 BD 患者和 HC。通过序列特异性聚合酶链反应（SSP-PCR）确定 HLA-B51 的存在，通过 Sanger 测序方法确定 HLA-B51 亚型。

结果

共评估了 83 名 BD 患者和 258 名 HC。DB 患者中 HLA-B51 的检出率为 30.1%，HC 中为 15.5%（p=0.003）。DB 患者中最常见的亚型为 HLA-B51:01（60.0%）、HLA-B51:08（20.0%）、HLA-B51:22（8.0%）、HLA-B51:29（8.0%）和 HLA-B51:02（4.0%），而 HLA-B51:01（77.5%）和 HLA-B51:55（7.5%）在 HC 中最为常见。HLA-B51 在神经系统受累患者中较少见（8.0% vs. 29.3%；p=0.034），而 HLA-B51:01 在眼部受累患者中更为常见（93.3% vs. 60.3%；p=0.014）。无神经系统或血管受累的 BD 患者存在 HLA-B51:01。HLA-B51:08 在血管表现患者中更为常见（60.0% vs. 15.4%；p=0.012）。多变量分析显示，HLA-B51 是 BD 的独立危险因素（OR=2.410；95%CI：1.332-4.361；p=0.004），HLA-B51:08 与 BD 的血管表现有独立关联（OR=14.843；95%CI：1.550-142.115；p=0.019）。