Unit of Rheumatology, Department of Internal Medicine, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas, SP, Brazil.
Dis Markers. 2013;35(2):73-8. doi: 10.1155/2013/301415. Epub 2013 Jul 28.
The aim of this study was to evaluate human leukocyte antigen (HLA) involvement in the disease expression and poor prognostic clinical features (pulmonary fibrosis and pulmonary arterial hypertension) in patients diagnosed with systemic sclerosis (SSc) in a multiethnic population.
SSc patients followed up between 2008 and 2011 were included, and clinical data were obtained through records review. Molecular HLA typing was performed (polymerase chain reaction amplification technique using specific primer sequences). The statistical analysis involved Fisher's exact test and Pearson's corrected chi-square test. P (values) ≤ 0.05 were considered significant. The delta method was used to estimate the variance of the prevalence ratio (PR).
A total of 141 patients (120 women and 21 men) with SSc were studied, including 33.3% with diffuse cutaneous SSc (dcSSc), 62.4% with limited cutaneous SSc (lcSSc), and 4.3% with sine scleroderma. Pulmonary fibrosis was present in 61 patients (43.3%), and the HLA-A∗30 and DQB1∗04 alleles were related to susceptibility. In contrast, the HLA-DRB1∗01 and DQB1∗05 alleles were protective. Pulmonary arterial hypertension was diagnosed in 19 patients (13.5%) and was associated with HLA-B∗35 and C∗04; in contrast, C∗03 seemed to be protective.
Our current study documents the association of some classes I and II HLA alleles with the most severe clinical manifestations in a multiethnic case series. Our findings differed slightly from the previous data in other populations.
本研究旨在评估人类白细胞抗原（HLA）在多民族人群中系统性硬化症（SSc）患者疾病表现和不良预后临床特征（肺纤维化和肺动脉高压）中的作用。
纳入了 2008 年至 2011 年间随访的 SSc 患者，并通过病历回顾获取临床数据。进行分子 HLA 分型（聚合酶链反应扩增技术，使用特定引物序列）。统计分析采用 Fisher 确切检验和 Pearson 校正卡方检验。P 值（P 值）≤0.05 被认为有统计学意义。使用 delta 方法估计患病率比（PR）的方差。
共研究了 141 例 SSc 患者（120 名女性和 21 名男性），包括 33.3%的弥漫性皮肤 SSc（dcSSc）、62.4%的局限性皮肤 SSc（lcSSc）和 4.3%的无皮肤硬化 SSc。61 例（43.3%）患者存在肺纤维化，HLA-A∗30 和 DQB1∗04 等位基因与易感性相关。相反，HLA-DRB1∗01 和 DQB1∗05 等位基因具有保护作用。19 例（13.5%）患者诊断为肺动脉高压，与 HLA-B∗35 和 C∗04 相关；相反，C∗03 似乎具有保护作用。
本研究在多民族病例系列中记录了一些 I 类和 II 类 HLA 等位基因与最严重临床表现的关联。我们的研究结果与其他人群的先前数据略有不同。
