Related Experiment Video

Updated: Nov 10, 2025

The CYP2D6 Animal Model: How to Induce Autoimmune Hepatitis in Mice
09:03

The CYP2D6 Animal Model: How to Induce Autoimmune Hepatitis in Mice

Published on: February 3, 2012

19.6K

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

Bastian Engel1, Alena Laschtowitz2, Maciej K Janik3

  • 1Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.

European Journal of Medical Genetics
|April 3, 2021
PubMed

Insights

Genetic factors influence Autoimmune Hepatitis (AIH) risk and progression. This review details known genetic risk factors for AIH in both adults and children, crucial for understanding disease development.

Area of Science:

  • Hepatology
  • Immunology
  • Genetics

Background:

  • Autoimmune Hepatitis (AIH) is a chronic liver disease with high remission rates but requires lifelong immunosuppression.
  • Therapy aims to prevent cirrhosis, the primary cause of mortality in AIH patients.
  • AIH pathogenesis involves immune reactivity to self-antigens, potentially triggered by infections and influenced by genetic factors.

Purpose of the Study:

  • To review current knowledge on genetic risk factors associated with Autoimmune Hepatitis (AIH).
  • To cover genetic influences on both adult and pediatric AIH.
  • To highlight key genetic associations impacting AIH development and disease course.

Main Methods:

  • Literature review of studies on genetic risk factors in Autoimmune Hepatitis.
  • Analysis of genome-wide association studies (GWAS) and other genetic association studies.
  • Synthesis of findings on specific genes and HLA alleles implicated in AIH.

Main Results:

  • HLA-DRB1*03:01 and HLA-DRB1*04:01 are major genetic risk factors for adult AIH.
  • Other potential risk loci identified include genes such as SH2B3, CARD10, and KIR.
  • Genetic factors contribute to the risk of developing AIH and influence disease severity.

Conclusions:

  • Genetic predisposition plays a significant role in Autoimmune Hepatitis.
  • Understanding these genetic risk factors is essential for advancing AIH research and treatment.
  • Further research into genetic contributions can improve patient outcomes and therapeutic strategies.

Keywords:
Autoimmune hepatitisHuman leukocyte antigenRegulatory T-cells

More Related Videos

Induction of Drug-Induced, Autoimmune Hepatitis in BALB/c Mice for the Study of Its Pathogenic Mechanisms11:36

Induction of Drug-Induced, Autoimmune Hepatitis in BALB/c Mice for the Study of Its Pathogenic Mechanisms

Published on: May 29, 2020

3.2K
Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model04:39

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

2.1K

Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
1.1K
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
80
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess...
54
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
82
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.0K
Effect of Hepatic Disease on Pharmacokinetics: Dose Adjustments Due to Hepatic Impairment01:08

Effect of Hepatic Disease on Pharmacokinetics: Dose Adjustments Due to Hepatic Impairment

Hepatic impairment, characterized by decreased liver function, does not uniformly mandate adjustments in drug dosage. Whether dosage modifications are necessary depends on various factors related to the drug's metabolism and elimination pathways. If a drug is primarily excreted via the kidneys and bypasses significant hepatic processing, if it undergoes minimal metabolic transformation in the liver, or if it is volatile and primarily expelled through the lungs, dose adjustments may not be...
71