Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Chronic Pancreatitis I: Introduction

Chronic Pancreatitis I: Introduction

The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...

Pedigree Analysis

Pedigree Analysis

Diseases of the Liver and Gallbladder

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...

Autoimmune Disorders

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...

Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Genetic Lingo

Genetic Lingo

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Definition, diagnosis, and treatment of primary biliary cholangitis - autoimmune hepatitis (PBC-AIH) variant: An international expert delphi consensus.

Hepatology (Baltimore, Md.)·2026

Same author

Calling for Diversity: Improving Transfusion Safety Through High-Throughput Blood Group Microarray Genotyping.

Genomics, proteomics & bioinformatics·2026

Same author

Seronegative Autoimmune Hepatitis in Adults Is a Rare Entity Often Obscured by Suboptimal Diagnostic Assessment.

Liver international : official journal of the International Association for the Study of the Liver·2026

Same author

Paediatric autoimmune liver disease in Europe, the prospective ERN R-LIVER registry.

JHEP reports : innovation in hepatology·2026

Same author

Artificial Intelligence in hepatology: A position paper by the Italian Association for the Study of the Liver.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·2026

Same author

Innate immune cells in the pathogenesis of inflammatory bowel disease - from microbial metabolites to immune modulation.

Frontiers in gastroenterology (Lausanne, Switzerland)·2026

Search research articles

Related Experiment Video

Updated: Aug 24, 2025

A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia

A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia

Published on: February 3, 2023

Genetics of Primary Biliary Cholangitis.

Alessio Gerussi¹, Rosanna Asselta², Pietro Invernizzi¹

¹Division of Gastroenterology and Center for Autoimmune Liver Diseases, Department of Medicine and Surgery, University of Milano-Bicocca, Via Cadore 48, 20900 Monza (MB), Italy; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), San Gerardo Hospital, Monza, Italy.

Clinics in Liver Disease

|October 21, 2022

Summary

Primary biliary cholangitis (PBC) is an autoimmune liver disease influenced by genetics and environment. Further research is needed to understand its genetic basis and address the heritability gap.

Keywords:

Autoimmunity Complex trait GWAS HLA Liver

More Related Videos

Murine Precision-Cut Liver Slices as an Ex Vivo Model of Liver Biology

Murine Precision-Cut Liver Slices as an Ex Vivo Model of Liver Biology

Published on: March 14, 2020

Determining Bile Duct Density in the Mouse Liver

Determining Bile Duct Density in the Mouse Liver

Published on: April 30, 2019

Related Experiment Videos

Last Updated: Aug 24, 2025

A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia

A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia

Published on: February 3, 2023

Murine Precision-Cut Liver Slices as an Ex Vivo Model of Liver Biology

Murine Precision-Cut Liver Slices as an Ex Vivo Model of Liver Biology

Published on: March 14, 2020

Determining Bile Duct Density in the Mouse Liver

Determining Bile Duct Density in the Mouse Liver

Published on: April 30, 2019

Area of Science:

Hepatology
Immunology
Genetics

Background:

Primary biliary cholangitis (PBC) is a rare autoimmune liver disease targeting small bile ducts.
PBC is a complex trait influenced by interactions between genetic factors and environmental exposures.
Genome-wide association studies (GWAS) have advanced PBC research, but gaps remain compared to other autoimmune diseases.

Purpose of the Study:

To review the current understanding of PBC's genetic architecture.
To identify future research directions for PBC genetics.
To address the missing heritability in Primary Biliary Cholangitis.

Main Methods:

Literature review of genetic studies in PBC.
Analysis of current GWAS findings in PBC.
Discussion of potential research avenues for PBC genetic research.

Main Results:

Significant progress has been made in identifying genetic factors contributing to PBC.
The genetic architecture of PBC is complex, involving multiple genes and environmental interactions.
A considerable heritability gap persists in PBC research.

Conclusions:

Understanding PBC genetics is crucial for developing effective treatments.
Future research should focus on gene-environment interactions and novel genetic approaches.
Addressing the missing heritability will enhance our comprehension of PBC pathogenesis.