Şenay Ece Ünüvar, Korkmaz Celalettin, Zamani Ayşegül, Zamani Adil, Demirbaş Soner, Yildirim Mahmut Selman
Department of Pulmonary Disease, Konya Numune Hospital, Konya, Turkey.
Department of Pulmonary Disease, Necmettin Erbakan University, Faculty of Medicine, Konya, Turkey.
Medicine (Baltimore). 2025 Feb 28;104(9):e41640. doi: 10.1097/MD.0000000000041640.
Although numerous candidate genes have been identified in studies investigating the role of genetics in sarcoidosis, the strongest association has been reported with the Major Histocompatibility Complex/Human Leucocyte Antigen (MHC/HLA) region. This study aimed to evaluate HLA polymorphism and assess its association with cardiac and other extrapulmonary involvement in sarcoidosis patients.
The study included 67 patients diagnosed with sarcoidosis. A control group of 100 bone marrow donors, who had undergone HLA genotyping previously, was also included. Blood samples were collected from all participants for HLA gene polymorphism analysis. The differences in HLA genotypes were investigated between patients with and without cardiac and other extrapulmonary involvement, and between these groups and the control group.
Cardiac involvement, was present in 17.9% of the patients. The most frequently affected extrapulmonary organ was the skin (23.8%). HLA DQB103 and HLA DQB106 alleles were expressed more frequently in patients with only pulmonary involvement compared to those with extrapulmonary involvement. Conversely, HLA DQA101 was expressed more frequently in patients with extrapulmonary involvement. No statistically significant difference in the expression of HLA DRB1, HLA DQB1, and HLA DQA1 alleles was observed between sarcoidosis patients with and without cardiac involvement.
Our findings suggest that HLA DQB103 and HLA DQB106 alleles might be protective against extrapulmonary organ involvement, while HLA DQA101 could be a risk factor. These findings may contribute to the prediction of treatment response and prognosis in sarcoidosis patients.
尽管在研究遗传学在结节病中的作用时已鉴定出众多候选基因，但据报道与主要组织相容性复合体/人类白细胞抗原（MHC/HLA）区域的关联最为紧密。本研究旨在评估HLA多态性，并评估其与结节病患者心脏及其他肺外受累情况的关联。
该研究纳入了67例被诊断为结节病的患者。还纳入了一个由100名先前已进行HLA基因分型的骨髓供者组成的对照组。采集所有参与者的血样进行HLA基因多态性分析。研究了有和没有心脏及其他肺外受累的患者之间，以及这些组与对照组之间HLA基因型的差异。
17.9%的患者存在心脏受累。最常受累的肺外器官是皮肤（23.8%）。与有肺外受累的患者相比，仅肺部受累的患者中HLA DQB103和HLA DQB106等位基因的表达更为频繁。相反，HLA DQA101在有肺外受累的患者中表达更为频繁。在有和没有心脏受累的结节病患者之间，未观察到HLA DRB1、HLA DQB1和HLA DQA1等位基因表达的统计学显著差异。
我们的研究结果表明，HLA DQB103和HLA DQB106等位基因可能对肺外器官受累具有保护作用，而HLA DQA101可能是一个危险因素。这些发现可能有助于预测结节病患者的治疗反应和预后。
