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

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BACKGROUND: Bullous pemphigoid is known to be an autoimmune, life-threatening blistering skin disorder characterized by subepidermal blister formation. In bullous pemphigoid 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 Stevens-Johnson syndrome and toxic epidermal necrolysis. It was also suggested that Stevens-Johnson syndrome and toxic epidermal necrolysis might be associated both with HLA I and II classes.

AIM: To assess the prevalence of HLA-DRB1 and DQB1 alleles at a low and high-resolution levels in patients with bullous pemphigoid and Stevens-Johnson syndrome / toxic epidermal necrolysis.

MATERIALS AND METHODS: 29 Bullous pemphigoid, 14 Stevens-Johnson syndrome / toxic epidermal necrolysis patients and 92 health volunteers were included in the study. HLA-DRB1 and DQB1 alleles were assessed by polymerase chain reaction using specific primers.

RESULTS: At a low-resolution level, HLA-DRB1*4 (p <0.02) and DRB1*14 (p <0.0015) alleles were statistically significantly revealed in bullous pemphigoid patients compared to health controls. Additionally, at the high-resolution level the predisposing to bullous pemphigoid HLA-DRB1*04:02 allele was also identified (p <0.01). At the low-resolution level of HLA-DQB1 typing we displayed protective and predisposing to bullous pemphigoid alleles HLA-DQB1*1 (p <0.01) and HLA-DQB1*2 (p <0.039) 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 (p <0.01). In patients with Stevens-Johnson syndrome / toxic epidermal necrolysis, HLA-DRB1*4 allele was shown to be predisposing (p <0.03). 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 HLA-DRB1*4, DRB1*14, DRB1*04:02 alleles predisposing to the development of bullous pemphigoid, with the HLA-DQB1*1 allele being protective for the development of bullous pemphigoid and HLA-DRB1*4 allele predisposing to the development of severe drug reactions of Stevens-Johnson syndrome / toxic epidermal necrolysis. No any protective alleles in Stevens-Johnson syndrome / toxic epidermal necrolysis patients were detected.

作者简介

Anfisa Lepekhova

Sechenov First Moscow State Medical University (Sechenov University)

编辑信件的主要联系方式.
Email: anfisa.lepehova@yandex.ru
ORCID iD: 0000-0002-4365-3090
SPIN 代码: 3261-3520

MD, Cand. Sci. (Med.), Associate Professor

俄罗斯联邦, Moscow

Alexander Dukhanin

The Russian National Research Medical University named after N.I. Pirogov

Email: das03@rambler.ru
ORCID iD: 0000-0003-2433-7727
SPIN 代码: 5028-6000

MD, Dr. Sci. (Med.), Professor

俄罗斯联邦, Moscow

Natalia Teplyuk

Sechenov First Moscow State Medical University (Sechenov University)

Email: teplyukn@gmail.com
ORCID iD: 0000-0002-5800-4800
SPIN 代码: 8013-3256

MD, Dr. Sci. (Med.), Professor

俄罗斯联邦, Moscow

Nikolai Shimanovsky

The Russian National Research Medical University named after N.I. Pirogov

Email: shiman@rsmu.ru
ORCID iD: 0000-0001-8887-4420
SPIN 代码: 5232-8230

MD, Dr. Sci. (Med.), Professor, Corresponding member of the Russian Academy of Sciences

俄罗斯联邦, Moscow

Alexander Yudin

The Russian National Research Medical University named after N.I. Pirogov; City Clinical Hospital N 24

Email: youdine@gmail.com
ORCID iD: 0000-0003-3419-8521
SPIN 代码: 8955-0169

MD, Cand. Sci. (Med.), Associate Professor

俄罗斯联邦, Moscow; Moscow

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2. Fig. 1. Distribution of groups of sick and healthy donors by sex. ССД/ТЭН ― Stevens–Johnson syndrome / toxic epidermal necrolysis.

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3. Fig. 2. Distribution of drugs that induced Stevens-Johnson syndrome/toxic epidermal necrolysis (%). НПВС ― non-steroidal anti-inflammatory drugs; БАД ― biologically active supplement.

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