Human leukocyte antigen class II (DRB1 and DQB1) alleles frequencies in patients with various forms of pemphigus among the Russian population
- Authors: Olisova O.Y.1, Lepekhova A.A.1, Dukhanin A.S.2, Teplyuk N.P.1, Shimanovsky N.L.2
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Affiliations:
- I.M. Sechenov First Moscow State Medical University
- Pirogov Russian National Research Medical University
- Issue: Vol 27, No 2 (2024)
- Pages: 143-153
- Section: DERMATOLOGY
- URL: https://journals.rcsi.science/1560-9588/article/view/262154
- DOI: https://doi.org/10.17816/dv624417
- ID: 262154
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Abstract
BACKGROUND: Autoimmune bullous dermatoses are known to be the most severe blistering conditions of skin. HLA-DRB1 and DQB1 alleles might play a crucial role in their onset. In pemphigus HLA class II molecules stimulate the division of T helper cells, which in turn stimulate B cells to produce antibodies to epidermal keratinocytes causing acantholysis. The HLA-DRB1 and DQB1 alleles’ frequencies studied in pemphigus in a vast variety of populations worldwide. However, as of yet, this mechanism was not investigated in Russian population.
AIM: To estimate the prevalence of the HLA-DRB1 and DQB1 alleles at a low- and high-resolution levels in patients with various forms of pemphigus. We observed 86 patients with pemphigus vulgaris, 13 ― with pemphigus foliaceus, 6 patients with paraneoplastic pemphigus and 92 healthy volunteers.
MATERIALS AND METHODS: HLA typing for DRB1 and DQB1 was performed with 50 nanogram DNA extraction and polymerase chain reaction.
RESULTS: At a low-resolution level HLA-DRB1*4 and DRB1*14 alleles were statistically significant more frequent in pemphigus vulgaris and pemphigus foliaceus patients compared to those in control subjects, whereas HLA-DRB1*11, DRB*16, and DRB1*3 alleles were more frequent in healthy volunteers. At a high-resolution level, DRB1*04:02 allele was observed to show its statistically significant higher frequency in all variants of pemphigus, including paraneoplastic pemphigus. However, DRB1*14:05 HLA allele was more frequent in pemphigus vulgaris and pemphigus foliaceus patients, whereas DRB1*11:04 one was found to be 3.7 times more frequent in healthy controls. Additionally, at a low-resolution level for HLA-DQB1 alleles no statistically significant results were observed. However, at a high-resolution level the chances for more frequent indication of DQB1*03:02 allele were 7.09 times higher in pemphigus foliaceus group and 2.49 higher in pemphigus vulgaris patients compared to healthy volunteers. Moreover, DQB1*05:03 was identified more frequently in pemphigus vulgaris and paraneoplastic pemphigus groups of patients, whereas DQB1*03:01 allele was shown to be increased in the group of healthy donors.
CONCLUSION: HLA-DRB1*4, DRB1*14, DRB1*04:02, DRB1*14:05, DQB1*03:02 and DQB1*05:03 alleles might be considered as the genetic markers for pemphigus vulgaris susceptibility, while HLA-DRB1*11, DRB*16, DRB1*3, DRB1*11:04 and DQB1*03:01 allelic groups appear to be protective for Russian population.
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##article.viewOnOriginalSite##About the authors
Olga Yu. Olisova
I.M. Sechenov First Moscow State Medical University
Email: olisovaolga@mail.ru
ORCID iD: 0000-0003-2482-1754
SPIN-code: 2500-7989
MD, Dr. Sci. (Med.), Professor, Corresponding member of the Russian Academy of Sciences
Russian Federation, MoscowAnfisa A. Lepekhova
I.M. Sechenov First Moscow State Medical University
Author for correspondence.
Email: anfisa.lepehova@yandex.ru
ORCID iD: 0000-0002-4365-3090
SPIN-code: 3261-3520
MD, Cand. Sci. (Med.), Associate Professor
Russian Federation, MoscowAlexander S. Dukhanin
Pirogov Russian National Research Medical University
Email: das03@rambler.ru
ORCID iD: 0000-0003-2433-7727
SPIN-code: 5028-6000
MD, Dr. Sci. (Med.), Professor
Russian Federation, MoscowNatalia P. Teplyuk
I.M. Sechenov First Moscow State Medical University
Email: teplyukn@gmail.com
ORCID iD: 0000-0002-5800-4800
SPIN-code: 8013-3256
MD, Dr. Sci. (Med.), Professor
Russian Federation, MoscowNikolay L. Shimanovsky
Pirogov Russian National Research Medical University
Email: shimannn@yandex.ru
ORCID iD: 0000-0001-8887-4420
SPIN-code: 5232-8230
MD, Dr. Sci. (Med.), Professor, Corresponding member of the Russian Academy of Sciences
Russian Federation, MoscowReferences
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