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

TL;DR

This study examines HLA-ABC allele groups in Chilean rheumatoid arthritis patients and healthy individuals, finding that HLA-C*07 is more common in patients.

Contribution

The study identifies a significant association between HLA-C*07 and rheumatoid arthritis in a Chilean cohort.

Findings

HLA-C*07 allele group is significantly more frequent in RA patients than in healthy subjects.

Most other HLA-ABC allele groups show similar frequencies between RA patients and healthy subjects.

HLA-C*07 remains significant after Bonferroni correction, indicating a strong association with RA.

Abstract

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.

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.

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.

The online version contains supplementary material available at 10.1186/s40659-025-00663-w.

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