Department of Pulmonary Medicine, Faculdade de Ciências Médicas, Rio de Janeiro State University, Brazil.
Hum Immunol. 2013 Oct;74(10):1326-32. doi: 10.1016/j.humimm.2013.07.009. Epub 2013 Aug 1.
Sarcoidosis is a multisystem granulomatous disorder of unknown etiology. Hereditary etiology has been proposed as a cause of the sarcoidosis, and some Human Leucocyte Antigen (HLA) alleles have been related to the diagnosis or severity of the disease. Löfgren's syndrome has been linked to patients with the DRB103 allele, and non-resolving disease has been associated with the DRB107, DRB114 and DRB115 alleles. However, the results observed in Caucasian patients are not reproducible in other populations, such as in Japanese individuals. The aim of this study is to examine the HLA alleles in Brazilian patients with sarcoidosis confirmed by biopsy. Sixty-three patients were included in the study, and the HLA alleles were compared with 126 control individuals. HLA-A, -B, -C, -DRB1 and -DQB1 genes were typed using a Luminex Multi-analyte profiling system (One Lambda, Inc. Canoga Park, CA). Among sarcoidosis patients, the HLA A23, A80, B08, B41, DQB105 and DRB114 antigens tended to be more common than in the controls, whereas the B44, B45, B51, B58, DRB115 and DRB116 alleles were more frequently found in control subjects than in the sarcoidosis patients. However, after Bonferroni correction, only the HLA-DRB114 allele was found to be significantly different between sarcoidosis patients and controls (pC=0.0047, OR=11.69, CI=2.47-55.22). This allele was more frequent in mestizos and black patients. The presence of an HLA-DRB114 allele might determine the risk of sarcoidosis in Brazilian individuals, especially in mestizos and black patients.
结节病是一种病因不明的多系统肉芽肿性疾病。遗传病因已被提出是结节病的原因,一些人类白细胞抗原 (HLA) 等位基因与疾病的诊断或严重程度有关。 Löfgren 综合征与携带 DRB103 等位基因的患者有关,而无法缓解的疾病与 DRB107、DRB114 和 DRB115 等位基因有关。然而,在白种人群中观察到的结果在其他人群中(如日本人群)不可复制。本研究旨在检查经活检证实的巴西结节病患者的 HLA 等位基因。63 名患者纳入本研究,将 HLA 等位基因与 126 名对照个体进行比较。使用 Luminex 多分析物分析系统(One Lambda,Inc. Canoga Park,CA)对 HLA-A、-B、-C、-DRB1 和-DQB1 基因进行分型。在结节病患者中,与对照组相比,HLA A23、A80、B08、B41、DQB105 和 DRB114 抗原更为常见,而 B44、B45、B51、B58、DRB115 和 DRB116 等位基因在对照组中比在结节病患者中更为常见。然而,经过 Bonferroni 校正后,仅 HLA-DRB114 等位基因在结节病患者和对照组之间存在显著差异(pC=0.0047,OR=11.69,CI=2.47-55.22)。该等位基因在混血儿和黑人患者中更为常见。HLA-DRB114 等位基因的存在可能决定了巴西个体发生结节病的风险,尤其是在混血儿和黑人患者中。