Human leukocyte antigen class II (DRB1 and DQB1) alleles frequencies in patients with bullous pemphigoid, Stevens Johnson syndrome and toxic epidermal necrolysis in Russian population

Abstract

ABSTRACT Background: Bullous pemphigoid (BP) is known to be an autoimmune, life-threatening blistering skin disorder characterized by subepidermal blister formation. In BP activation of B-cell immunity depends on the interaction between T-cell receptors and classic HLA II molecules. Similar interrelation has been revealed in a vast variety of studies on severe allergic reactions such as Steven Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). It was also suggested that SJS and TEN might be associated both with HLA I and II classes. The aim of the study: to assess the prevalence of HLA-DRB1 and DQB1 alleles at a low and high-resolution levels in patients with BP and SJS/TEN. Materials and methods: 29 BP, 14 SJS/TEN patients and 92 health volunteers were included in the study. HLA-DRB1 and DQB1 alleles were assessed by PCR reaction using specific primers. Results: at a low-resolution level, HLA-DRB1*4 (p0,02) and DRB1*14 (p0,0015) alleles were statistically significantly revealed in BP patients compared to health controls. Additionally, at the high-resolution level the predisposing to BP HLA-DRB1*04:02 allele was also identified (p0,01). At the low-resolution level of HLA-DQB1 typing we displayed protective and predisposing to BP alleles – HLA-DQB1*1 (p0,01) and HLA-DQB1*2 (p0,039) respectively. At the low-resolution level of HLA-DQB1 typing, the chances to obtain DQB1*03:02 allele were 3,71 times higher compared to healthy volunteers (p0,01). In patients with SJS/TEN, HLA-DRB1*4 allele was shown to be predisposing (p0,03). For all other types of HLA alleles (DRB1 and DQB1) at the high-resolution level no any statistically significant results have been observed in these patients. Conclusion: we identified predisposing to BP and SJS/TEN HLA alleles, such as: HLA-DRB1*4, DRB1*14, DRB1*04:02m DQB1*2; and HLA-DRB1*4 respectively. Whereas, HLA-DQB1 allele was shown to be protective to BP development. No any protective alleles in SJS/TEN patients were detected.