HLA class I and class II frequencies in patients with sarcoidosis from Croatia: role of HLA-B8, -DRB1*0301, and -DQB1*0201 haplotype in clinical variations of the disease

Abstract

Sarcoidosis is an immune-mediated, multiorgan, granulomatous disease triggered by a combination of environmental and genetic factors. Numerous studies have reported about an association of human leukocyte antigen (HLA) alleles with sarcoidosis, with variation of alleles in different ethnic groups. Therefore, we investigated 142 Croatian sarcoidosis patients treated at the University Hospital for Lung Diseases Jordanovac, Zagreb, Croatia. Diagnosis was based on the presence of typical clinical features, chest X-ray findings and biopsy evidence of granuloma. Patients and control subjects (n = 190) were typed for HLA class I antigens by serology, while for HLA class II, they were tested by the polymerase chain reaction-sequence specific primers (PCR-SSP) method. Results indicated that HLA-B8, -DRB1*0301, and -DQB1*0201 positive patients have a significantly higher risk of acute onset of the disease (AOD), radiological stage I erythema nodosum (EN), Löfgren's syndrome, no-medicament therapy, and pulmonary sarcoidosis. On the other hand, the group of non-treated patients (corticosteroids and/or immunosuppressive) showed a significantly lower presence of HLA-B15 antigen in comparison to controls and treated patients (P = 0.0490 and P = 0.0379, respectively) and for DRB1*04 specificity (P = 0.0078 and P = 0.0065, respectively). In the group of patients with AOD, those who were positive for DRB1*16 specificity have a statistically significant chance to develop EN, as opposed to those who are positive for DRB1*15 specificity.