Comprehensive Analysis of the HLA Class I and the HLA Class II Alleles in Patients with Takayasu Arteritis: Relationship with Clinical Patterns and Prognosis

Iran J Immunol. 2021 Dec;18(4):354-365. doi: 10.22034/IJI.2021.88846.1911.

Abstract

Background: Takayasu arteritis (TA) is a systemic vasculitis, affecting mainly the aorta and its branches.

Objective: To analyze the HLA class I and class II alleles in patients with TA and explore their relationship with clinical and demographic characteristics, and potential significance in prognosis.

Methods: Twenty-five, unrelated TA patients were genotyped for HLA-A, HLA-B, HLA-C, HLA-DRB1, and the HLA-DQB1 loci. The frequencies of the HLA-A, HLA-B, and the HLA-DRB1 were compared with a control group of 1992, while the HLA-C and the HLA-DQB1 were compared with a group of 159 healthy, unrelated individuals.

Results: Among TA patients, 5/25 (20%) were identified as the HLA-B*52 carriers. There was a significant difference in the HLA-B*52 allele frequency in the TA patients (10%) compared with the healthy controls (1.2%). Moreover, presence of the HLA-B*52 was associated with significantly earlier disease onset, more severe clinical presentations, and a poorer response to treatment. The HLA-C*03 was detected in 32% of patients and was present exclusively in those with a clinically mild form of the TA, indicating a putative protective effect.

Conclusion: These findings indicate that the HLA-B*52 allele contributes to a higher susceptibility to the TA whereas the HLA-C*03, can be a protective factor in the TA.

Keywords: Biomarkers; HLA; Immunogenetics; Takayasu arteritis; Vasculitis.

MeSH terms

  • Alleles
  • Gene Frequency
  • Genes, MHC Class I*
  • Genes, MHC Class II*
  • Genetic Predisposition to Disease
  • HLA-B Antigens / genetics
  • HLA-DQ beta-Chains / genetics
  • HLA-DRB1 Chains / genetics
  • Haplotypes
  • Humans
  • Prognosis
  • Takayasu Arteritis* / diagnosis
  • Takayasu Arteritis* / genetics

Substances

  • HLA-B Antigens
  • HLA-DQ beta-Chains
  • HLA-DRB1 Chains