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Updated: Jul 12, 2026
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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Mapping cholesterol gallstone susceptibility (Lith) genes in inbred mice
H Wittenburg1, M A Lyons, B Paigen
1Department of Medicine, Harvard Medical School, Gastroenterology Division, Brigham and Women's Hospital, and Harvard Digestive Diseases Center, Boston, MA 02115, USA.
Summary
Complex genetics influence cholesterol gallstone formation. This review uses inbred mice to identify susceptibility genes (Lith genes), aiding the search for human gene equivalents.
Area of Science:
- Genetics
- Gastroenterology
- Animal Models
Background:
- Cholesterol gallstone risk is influenced by complex genetics and environmental factors.
- Inbred mice serve as a valuable model for dissecting the genetic basis of gallstone formation.
- Specific dietary components, like cholesterol and cholic acid, can trigger gallstone development in susceptible individuals.
Purpose of the Study:
- To review the methodology for identifying murine genes associated with cholesterol gallstone susceptibility (Lith genes).
- To summarize the process of localizing quantitative trait loci (QTLs) for gallstone formation in mice.
- To highlight the discovery of Lith1-Lith5 and their significance for future human gene research.
Main Methods:
- Utilizing inbred mouse strains with varying gallstone susceptibility.
- Employing quantitative trait locus (QTL) mapping through controlled breeding crosses.
- Analyzing genetic data to pinpoint chromosomal regions harboring Lith genes.
Main Results:
- Identification of five quantitative trait loci (QTLs) for murine cholelithogenesis, named Lith1 through Lith5.
- Demonstration of the utility of mouse models in localizing gallstone susceptibility genes.
- Establishment of a framework for discovering orthologous human LITH genes.
Conclusions:
- Inbred mice are effective for identifying genes contributing to cholesterol gallstone formation.
- The identified Lith genes provide a foundation for investigating human gallstone disease genetics.
- Further research will focus on confirming gene functions and testing roles in human populations.
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