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



Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

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 (p<0,02) and DRB1*14 (p<0,0015) 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 (p<0,01). At the low-resolution level of HLA-DQB1 typing we displayed protective and predisposing to BP 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 SJS/TEN, 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 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.

Full Text

Restricted Access

References

  1. СПИСОК ЛИТЕРАТУРЫ
  2. Fang, Hui et al. Association of HLA class I and class II alleles with bullous pemphigoid in Chinese Hans. Journal of dermatological science vol. 2018; 258-262. doi: 10.1016/j.jdermsci.2017.11.014.
  3. Brochado MJF, Nascimento DF, Campos W, et al. Differential HLA class I and class II associations in pemphigus foliaceus and pemphigus vulgaris patients from a prevalent Southeastern Brazilian region. J. Autoimmun. 72. 2016; 19–24.
  4. Zakka LR, Reche P, Ahmed AR, et al. Class II genes in the pathogenesis of pemphigoid, Autoimmun. Rev. 11. 2011; 40–47.
  5. Hertl M, Eming R, Veldman C, T cell control in autoimmune bullous skin disorders. J. Clin. Invest. 116 (2006);1159–1166.
  6. Banfield CC, Wojnarowska F, Allen J, et al. The association of HLA-DQ7 with bullous pemphigoid is restricted to men. Br. J. Dermatol. 138. 1998;1085–1090.
  7. Budinger L, Borradori C, Yee R, et al. Identification and characterization of autoreactive T cell responses to bullous pemphigoid antigen 2 in patients and healthy controls. J. Clin. Invest. 102. 1998;2082–2089.
  8. Okazaki S, Miyagawa Y, Yamashina W, et al. Polymorphisms of HLA-DR and DQ genes in Japanese patients with bullous pemphigoid. J. Dermatol. 27. 2000;149–156.
  9. Gao XH, Winsey S, Li G, et al. HLA-DR and DQ polymorphisms in bullous pemphigoid from northern China. Clin. Exp. Dermatol. 27. 2002;319–321.
  10. Hasegawa A, Abe R. Recent advances in managing and understanding Stevens-Johnson syndrome and toxic epidermal necrolysis. F1000Res. 2020; 9:F1000 Faculty Rev-612. doi: 10.12688/f1000research.24748.1.
  11. Hsu DY, Brieva J, Silverberg NB, et al. Morbidity and Mortality of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in United States Adults. J Invest Dermatol. 2016; 136(7): 1387–97.
  12. Illing PT, Vivian JP, Dudek NL, et al. Immune self-reactivity triggered by drug-modified HLA-peptide repertoire. Nature. 2012; 486(7404): 554–8.
  13. Ostrov DA, Grant BJ, Pompeu YA, et al. Drug hypersensitivity caused by alteration of the MHC-presented self-peptide repertoire. Proc Natl Acad Sci USA. 2012; 109(25): 9959–64.
  14. Chung WH, Hung SI, Hong HS, et al. Medical genetics: A marker for Stevens-Johnson syndrome. Nature. 2004; 428(6982): 486.
  15. Kaniwa N, Saito Y, Aihara M, et al. HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics. 2008; 9(11): 1617–22.
  16. Park HJ, Kim YJ, Kim DH, et al. HLA Allele Frequencies in 5802 Koreans: Varied Allele Types Associated with SJS/TEN According to Culprit Drugs. Yonsei Med J. 2016; 57(1): 118–26.
  17. Lonjou C, Borot N, Sekula P, et al. A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs. Pharmacogenet Genomics. 2008; 18(2): 99–107.
  18. Alfirevic A, Jorgensen AL, Williamson PR, et al. HLA-B locus in Caucasian patients with carbamazepine hypersensitivity. Pharmacogenomics. 2006; 7(6):813–8.
  19. Raj P, Rai E, Song R et al. Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity. Elife 5 (2016).
  20. Budinger L, Borradori C, Yee R, et al. Identification and characterization of autoreactive T cell responses to bullous pemphigoid antigen 2 in patients and healthy controls. J. Clin. Invest. 102 (1998) 2082–2089.
  21. Esmaili N, Mortazavi H, Chams-Davatchi C, et al. Association between HLA-DQB1*03:01 and bullous pemphigoid in Iranian patients. Iran, J. Immunol. 10(2013)1-9.
  22. Delgado JC, Turbay D, Yunis EJ, et al. A common major histocompatibility complex class II allele HLA-DQB1*0301 is present in clinical variants of pemphigoid. Proc. Natl. Acad. Sci. USA. 93(1996):8569–8571.
  23. Hung SI, Chung WH, Liou LB, et al. HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. Proc Natl Acad Sci USA. 2005; 102(11):4134–9.
  24. Niihara H, Kaneko S, Ito T, et al. HLA-B*58:01 strongly associates with allopurinol-induced adverse drug reactions in a Japanese sample population. J Dermatol Sci. 2013; 71(12):150–2.
  25. Yu KH, Yu CY, Fang YF: Diagnostic utility of HLA-B*5801 screening in severe allopurinol hypersensitivity syndrome: An updated systematic review and meta-analysis. Int J Rheum Dis. 2017;20(9):1057–71.
  26. Wu R, Cheng YJ, Zhu LL, et al. Impact of HLA-B*58:01 allele and allopurinol-induced cutaneous adverse drug reactions: evidence from 21 pharmacogenetic studies. Oncotarget. 2016;7(49):81870–9.
  27. Chen P, Lin JJ, Lu CS, et al. Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan. N Engl J Med. 2011;364(12):1126–33.
  28. Jutkowitz E, Dubreuil M, Lu N, et al. The Cost-Effectiveness of HLA-B*5801 Screening to Guide Initial Urate-Lowering Therapy for Gout in the United States. Semin Arthritis Rheum. 2017;46(5):594–600.
  29. Mallal S, Nolan D, Witt C, et al. Association Between Presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and Hypersensitivity to HIV-1 Reverse-Transcriptase Inhibitor Abacavir. Lancet. 2002;359:727–32. 10.1016/s0140-6736(02)07873-x.
  30. Saag M, Balu R, Phillips E, et al. High Sensitivity of Human Leukocyte Antigen–B*5701 as a Marker for Immunologically Confirmed Abacavir Hypersensitivity in White and Black Patients. Clin Infect Dis. 2008;46(7):1111–8. 10.1086/529382
  31. Nakamura R, Ozeki T, Hirayama N, et al. Association of HLA-A*11:01 with sulfonamide-related severe cutaneous adverse reactions in Japanese patients. J Invest Dermatol. 2020;140(8):1659-1662.e6. doi: 10.1016/j.jid.2019.12.025
  32. Wang CW, Tassaneeyakul W, Chen CB, et al. Taiwan/Asian Severe Cutaneous Adverse Reaction Consortium. Whole genome sequencing identifies genetic variants associated with co-trimoxazole hypersensitivity in Asians. J Allergy Clin Immunol. 2021;147(4):1402-1412. doi: 10.1016/j.jaci.2020.08.003
  33. Chang CC, Ng CC, Too CL, et al. Association of HLA-B*15:13 and HLA-B*15:02 with phenytoin-induced severe cutaneous adverse reactions in a Malay population. Pharmacogenomics J. 2017.17(2):170–173.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) Eco-Vector


СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 86501 от 11.12.2023 г. 
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ЭЛ № ФС 77 - 80653 от 15.03.2021 г.


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies