Genetic aspects of adult and pediatric autoimmune hepatitis: A concise review.

Adult Child Epigenesis, Genetic Genetic Predisposition to Disease Hepatitis, Autoimmune / genetics Humans Polymorphism, Single Nucleotide
Autoimmune hepatitis Human leukocyte antigen Regulatory T-cells

Journal

European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089

Informations de publication

Date de publication:
Jun 2021
Historique:
received: 31 12 2020
revised: 25 03 2021
accepted: 28 03 2021
pubmed: 4 4 2021
medline: 4 8 2021
entrez: 3 4 2021
Statut: ppublish

Résumé

Autoimmune Hepatitis (AIH) is a heterogenous, mostly chronic liver disease that affects people of all age groups, women more often than men. The aim of therapy is to prevent cirrhosis, as it mainly accounts for liver-related mortality in patients with AIH. Rates of remission are high in patients with AIH, but life-long immunosuppressive therapy is required. AIH is hypothesized to originate from immunologic reactivity targeted against mostly unknown self-antigens, potentially triggered by viral infections among other factors. While AIH does not follow a Mendelian inheritance pattern, part of the risk of developing AIH or worse disease course, is attributed to specific genetic risk factors. Major associations for the risk of development of AIH were found for HLA-DRB1*03:01 and HLA-DRB1*04:01 in adult AIH in the only genome-wide association study on AIH. However, other potential risk loci in SH2B3, CARD10 and KIR genes were described. This review covers the current knowledge on genetic risk factors in adult and pediatric AIH.

Identifiants

DOI: 10.1016/j.ejmg.2021.104214 PMID: 33812046
pubmed: 33812046
pii: S1769-7212(21)00080-X
doi: 10.1016/j.ejmg.2021.104214
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

104214

Informations de copyright

Copyright © 2021 Elsevier Masson SAS. All rights reserved.

Auteurs

Bastian Engel (B)

Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany. Electronic address: Engel.Bastian@mh-hannover.de.

Alena Laschtowitz (A)

I. Department of Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.

Maciej K Janik (MK)

Liver and Internal Medicine Unit, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.

Norman Junge (N)

Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.

Ulrich Baumann (U)

Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.

Piotr Milkiewicz (P)

Liver and Internal Medicine Unit, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland; Translational Medicine Group, Pomeranian Medical University, Szczecin, Poland; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.

Richard Taubert (R)

Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.

Marcial Sebode (M)

I. Department of Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Genetic aspects of adult and pediatric...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Genetic aspects of adult and pediatric...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Genetic aspects of adult and pediatric...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Genetic aspects of adult and pediatric...
questionsmedicales.fr › Maladies du système immunitaire › Maladies auto-immunes › Hépatite auto-immune › Genetic aspects of adult and pediatric...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic aspects of adult and pediatric...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Genetic aspects of adult and pediatric...