HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS.

Autor: Nunes MEG; Universidade Federal de Minas Gerais, Faculdade de Medicina, Laboratório de Medicina Molecular, Belo Horizonte, MG, Brasil., Rosa DV; Universidade Federal de Minas Gerais, Faculdade de Medicina, Laboratório de Medicina Molecular, Belo Horizonte, MG, Brasil., Fagundes EDT; Universidade Federal de Minas Gerais, Hospital das Clínicas, Serviço de Gastroenterologia Pediátrica, Belo Horizonte, MG, Brasil., Ferreira AR; Universidade Federal de Minas Gerais, Hospital das Clínicas, Serviço de Gastroenterologia Pediátrica, Belo Horizonte, MG, Brasil., Miranda DM; Universidade Federal de Minas Gerais, Faculdade de Medicina, Laboratório de Medicina Molecular, Belo Horizonte, MG, Brasil., Ferri Liu PM; Universidade Federal de Minas Gerais, Hospital das Clínicas, Serviço de Gastroenterologia Pediátrica, Belo Horizonte, MG, Brasil.
Jazyk: angličtina
Zdroj: Arquivos de gastroenterologia [Arq Gastroenterol] 2019 Aug 13; Vol. 56 (2), pp. 146-150. Date of Electronic Publication: 2019 Aug 13.
DOI: 10.1590/S0004-2803.201900000-29
Abstrakt: 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*13 increased 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.
Databáze: MEDLINE
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