Hla-drb1 gene polymorphisms in pediatric patients with type 1 autoimmune hepatitis and type 1 autoimmune hepatitis overlap syndrome with autoimmune cholangitis

• Autor(a) principal: Monique Ellen Gervásio Nunes
• Data de Publicação: 2019
• Outros Autores: Daniela Valadão Rosa, Eleonora Druve Tavares Fagundes, Alexandre Rodrigues Ferreira, Débora Marques de Miranda, Priscila Menezes Ferri Liu
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFMG
• Texto Completo: https://doi.org/10.1590/S0004-2803.201900000-29; http://hdl.handle.net/1843/57187
• topic: Autoimmune hepatitis; Sclerosing cholangitis; HLA-DRB1 chains; Genetic polimorphism; Hepatite Autoimune; Colangite Esclerosante; Cadeias HLA-DRB1

ABSTRACT – Background – Autoimmune hepatitis (AIH) is a rare chronic inflammatory liver disease associated with a loss of immunological tolerance to self-antigens. Susceptibility to AIH is partially determined by the presence of genes related to human leukocyte antigen (HLA), mainly allelic variants of DRB1. Objective – The purpose of this study was to investigate the frequencies of the polymorphisms in HLA-DRB1 gene in children and adolescents with type 1 AIH and type 1 AIH overlap syndrome with autoimmune cholangitis (overlap syndrome, OS) in comparison to healthy sex and age-matched individuals (control group). Methods – This is a cross-sectional study of 25 pediatric patients diagnosed with type 1 AIH and 18 with OS. Fifty-seven healthy individuals were included as controls. The polymorphisms of the HLA-DRB1 gene were evaluated by PCR and included HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*07, and HLA-DRB1*13. Results – Our results showed that the presence of the allele HLA-DRB1*13increased the chance of autoimmune cholangitis (OR=3.96, CI 1.07 to 14.61, P=0.04). The HLA-DRB1*04 and HLA- DRB1*07 have no association with the AIH and autoimmune cholangitis in a young sample. Conclusion – This work demonstrates an association of the main polymorphisms in the HLA-DRB1 gene to AIH with or without cholangitis in a Brazilian sample