Scientific Reports (Apr 2024)

Novel genetic variants of HLA gene associated with Thai Behcet’s disease (BD) patients using next generation sequencing technology

  • Gaidganok Sornsamdang,
  • John Shobana,
  • Kumutnart Chanprapaph,
  • Wasun Chantratita,
  • Sasithorn Chotewutmontri,
  • Preeyachat Limtong,
  • Pichaya O-charoen,
  • Chonlaphat Sukasem

DOI
https://doi.org/10.1038/s41598-024-58254-w
Journal volume & issue
Vol. 14, no. 1
pp. 1 – 10

Abstract

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Abstract Behçet's disease (BD) manifests as an autoimmune disorder featuring recurrent ulcers and multi-organ involvement, influenced by genetic factors associated with both HLA and non-HLA genes, including TNF-α and ERAP1. The study investigated the susceptible alleles of both Class I and II molecules of the HLA gene in 56 Thai BD patients and 192 healthy controls through next-generation sequencing using a PacBio kit. The study assessed 56 BD patients, primarily females (58.9%), revealing diverse manifestations including ocular (41.1%), vascular (35.7%), skin (55.4%), CNS (5.4%), and GI system (10.7%) involvement. This study found associations between BD and HLA-A*26:01:01 (OR 3.285, 95% CI 1.135–9.504, P-value 0.028), HLA-B*39:01:01 (OR 6.176, 95% CI 1.428–26.712, P-value 0.015), HLA-B*51:01:01 (OR 3.033, 95% CI 1.135–8.103, P-value 0.027), HLA-B*51:01:02 (OR 6.176, 95% CI 1.428–26.712, P-value 0.015), HLA-C*14:02:01 (OR 3.485, 95% CI 1.339–9.065, P-value 0.01), HLA-DRB1*14:54:01 (OR 1.924, 95% CI 1.051–3.522, P-value 0.034), and HLA-DQB1*05:03:01 (OR 3.00, 95% CI 1.323–6.798, P-value 0.008). However, after Bonferroni correction none of these alleles were found to be associated with BD. In haplotype analysis, we found a strong linkage disequilibrium in HLA-B*51:01:01, HLA-C*14:02:01 (P-value 0.0, Pc-value 0.02). Regarding the phenotype, a significant association was found between HLA-DRB1*14:54:01 (OR 11.67, 95% CI 2.86–47.57, P-value 0.001) and BD with ocular involvement, apart from this, no distinct phenotype-HLA association was documented. In summary, our study identifies specific HLA associations in BD. Although limited by a small sample size, we acknowledge the need for further investigation into HLA relationships with CNS, GI, and neurological phenotypes in the Thai population.