PMID- 31460577 OWN - NLM STAT- MEDLINE DCOM- 20190905 LR - 20190906 IS - 1678-4219 (Electronic) IS - 0004-2803 (Linking) VI - 56 IP - 2 DP - 2019 Aug 13 TI - HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS. PG - 146-150 LID - S0004-28032019000200146 [pii] LID - 10.1590/S0004-2803.201900000-29 [doi] AB - 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. FAU - Nunes, Monique Ellen Gervasio AU - Nunes MEG AUID- ORCID: 0000-0002-4291-9221 AD - Universidade Federal de Minas Gerais, Faculdade de Medicina, Laboratorio de Medicina Molecular, Belo Horizonte, MG, Brasil. FAU - Rosa, Daniela Valadao AU - Rosa DV AUID- ORCID: 0000-0001-8868-7895 AD - Universidade Federal de Minas Gerais, Faculdade de Medicina, Laboratorio de Medicina Molecular, Belo Horizonte, MG, Brasil. FAU - Fagundes, Eleonora Druve Tavares AU - Fagundes EDT AUID- ORCID: 0000-0002-5671-9570 AD - Universidade Federal de Minas Gerais, Hospital das Clinicas, Servico de Gastroenterologia Pediatrica, Belo Horizonte, MG, Brasil. FAU - Ferreira, Alexandre Rodrigues AU - Ferreira AR AUID- ORCID: 0000-0001-6749-8980 AD - Universidade Federal de Minas Gerais, Hospital das Clinicas, Servico de Gastroenterologia Pediatrica, Belo Horizonte, MG, Brasil. FAU - Miranda, Debora Marques de AU - Miranda DM AUID- ORCID: 0000-0002-7081-8401 AD - Universidade Federal de Minas Gerais, Faculdade de Medicina, Laboratorio de Medicina Molecular, Belo Horizonte, MG, Brasil. FAU - Ferri Liu, Priscila Menezes AU - Ferri Liu PM AUID- ORCID: 0000-0002-8608-8503 AD - Universidade Federal de Minas Gerais, Hospital das Clinicas, Servico de Gastroenterologia Pediatrica, Belo Horizonte, MG, Brasil. LA - eng PT - Journal Article DEP - 20190813 PL - Brazil TA - Arq Gastroenterol JT - Arquivos de gastroenterologia JID - 15310600R RN - 0 (HLA-DRB1 Chains) SB - IM MH - Adolescent MH - Case-Control Studies MH - Child MH - Cholangitis/*genetics MH - Cross-Sectional Studies MH - Female MH - Genetic Predisposition to Disease MH - HLA-DRB1 Chains/*genetics MH - Hepatitis, Autoimmune/*genetics MH - Humans MH - Male MH - Polymorphism, Genetic MH - Undifferentiated Connective Tissue Diseases/*genetics MH - Young Adult EDAT- 2019/08/29 06:00 MHDA- 2019/09/07 06:00 CRDT- 2019/08/29 06:00 PHST- 2019/01/08 00:00 [received] PHST- 2019/03/19 00:00 [accepted] PHST- 2019/08/29 06:00 [entrez] PHST- 2019/08/29 06:00 [pubmed] PHST- 2019/09/07 06:00 [medline] AID - S0004-28032019000200146 [pii] AID - 10.1590/S0004-2803.201900000-29 [doi] PST - epublish SO - Arq Gastroenterol. 2019 Aug 13;56(2):146-150. doi: 10.1590/S0004-2803.201900000-29.