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Background <p>Rheumatoid Arthritis (RA) is an autoimmune disease in which <i>HLA-DRB1</i> alleles encoding the “Shared Epitope” (SE), located in the β-chain of class II HLA-DR molecules, constitute the main genetic risk factor. However, there is scarce information about the role of HLA class I genes (<i>HLA-ABC</i>) in RA susceptibility. The present work aimed to evaluate the distribution of <i>HLA-ABC</i> allele groups in a cohort of Chilean RA patients and healthy subjects (HS), and to explore the influence of <i>HLA-DRB1</i> SE alleles on this distribution.</p> Results <p>135 RA patients and 122 HS were genotyped for <i>HLA-ABC</i>. The most frequent allele groups were <i>HLA-A*02</i> (24.0%), <i>HLA-B*39.1</i> (14.2%), and <i>HLA-C*07</i> (24.7%) for RA patients, and <i>HLA-A*02</i> (31.5%), <i>HLA-A*24</i> (12.8%) and <i>HLA-C*07</i> (17.7%) for HS. RA patients presented a significantly higher frequency of <i>HLA-C*07</i> (<i>p</i> = 0.0015) and <i>HLA-B*39.1</i> (<i>p</i> = 0.037) allele groups compared to HS. After applying the Bonferroni correction, the significant difference remained only for the <i>HLA-C*07</i> allele group (<i>p</i> = 0.015). In a subset of RA patients (n = 60), positive for <i>HLA-DRB1</i> SE alleles, the most frequent <i>HLA-ABC</i> allele groups were <i>HLA-A*02</i> (0–33.3%), <i>HLA-B*39.1</i> (0–16.7%), and <i>HLA-C*07</i> (22.2–60.0%), whereas <i>HLA-B*39.2</i> and <i>HLA-B*52</i> were the least frequent ones. Overall, <i>HLA-C*07</i> was the most frequent allele group across RA patients carrying <i>HLA-DRB1</i> SE alleles.</p> Conclusions <p>The <i>HLA-C*07</i> allele group shows a significantly higher presence in RA patients compared to HS. In contrast, the distribution of most other <i>HLA-ABC</i> allele groups in this cohort displays a similar frequency between RA patients and HS, consistent with data from different populations.</p>

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Distribution of HLA-ABC allele groups in a cohort of Chilean rheumatoid arthritis patients and healthy individuals

  • 期刊论文

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  • 发表日期：

    2025年12月24日

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  • Miqueas Jaime,
  • Lucero Toro,
  • Constanza Varela-Villarroel,
  • Darly Montano-Bruno,
  • Bárbara Pesce,
  • Daniela Schneider,
  • Lilian Soto,
  • Francisca Bozán,
  • Óscar Neira,
  • María C. Cuéllar-Gutiérrez,
  • Consuelo Arroyo,
  • Guido Rivera,
  • Eduard Palou,
  • Diego Catalán,
  • Jaxaira Maggi,
  • Juan C. Aguillón

摘要

Background

Rheumatoid Arthritis (RA) is an autoimmune disease in which HLA-DRB1 alleles encoding the “Shared Epitope” (SE), located in the β-chain of class II HLA-DR molecules, constitute the main genetic risk factor. However, there is scarce information about the role of HLA class I genes (HLA-ABC) in RA susceptibility. The present work aimed to evaluate the distribution of HLA-ABC allele groups in a cohort of Chilean RA patients and healthy subjects (HS), and to explore the influence of HLA-DRB1 SE alleles on this distribution.

Results

135 RA patients and 122 HS were genotyped for HLA-ABC. The most frequent allele groups were HLA-A*02 (24.0%), HLA-B*39.1 (14.2%), and HLA-C*07 (24.7%) for RA patients, and HLA-A*02 (31.5%), HLA-A*24 (12.8%) and HLA-C*07 (17.7%) for HS. RA patients presented a significantly higher frequency of HLA-C*07 (p = 0.0015) and HLA-B*39.1 (p = 0.037) allele groups compared to HS. After applying the Bonferroni correction, the significant difference remained only for the HLA-C*07 allele group (p = 0.015). In a subset of RA patients (n = 60), positive for HLA-DRB1 SE alleles, the most frequent HLA-ABC allele groups were HLA-A*02 (0–33.3%), HLA-B*39.1 (0–16.7%), and HLA-C*07 (22.2–60.0%), whereas HLA-B*39.2 and HLA-B*52 were the least frequent ones. Overall, HLA-C*07 was the most frequent allele group across RA patients carrying HLA-DRB1 SE alleles.

Conclusions

The HLA-C*07 allele group shows a significantly higher presence in RA patients compared to HS. In contrast, the distribution of most other HLA-ABC allele groups in this cohort displays a similar frequency between RA patients and HS, consistent with data from different populations.