Novel genetic variants of HLA gene associated with Thai Behcet's disease (BD) patients using next generation sequencing technology.
Sci Rep
; 14(1): 7967, 2024 04 04.
Article
em En
| MEDLINE
| ID: mdl-38575661
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*260101 (OR 3.285, 95% CI 1.135-9.504, P-value 0.028), HLA-B*390101 (OR 6.176, 95% CI 1.428-26.712, P-value 0.015), HLA-B*510101 (OR 3.033, 95% CI 1.135-8.103, P-value 0.027), HLA-B*510102 (OR 6.176, 95% CI 1.428-26.712, P-value 0.015), HLA-C*140201 (OR 3.485, 95% CI 1.339-9.065, P-value 0.01), HLA-DRB1*145401 (OR 1.924, 95% CI 1.051-3.522, P-value 0.034), and HLA-DQB1*050301 (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*510101, HLA-C*140201 (P-value 0.0, Pc-value 0.02). Regarding the phenotype, a significant association was found between HLA-DRB1*145401 (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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Behçet
Limite:
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Sci Rep
Ano de publicação:
2024
Tipo de documento:
Article