Genetic analysis of cholesterol gallstone formation: Searching for Lith (gallstone) genes

David Q.H. Wang, Nezam H. Afdhal

Research output: Contribution to journalReview article

47 Citations (Scopus)

Abstract

The genetics of cholesterol cholelithiasis is complex because a number of interacting genes regulate biliary cholesterol homeostasis. Quantitative trait locus (QTL) analysis is a powerful method for identifying primary rate-limiting genetic defects and discriminating them from secondary downstream lithogenic effects caused by mutations of the primary genes. The subsequent positional cloning of such genes responsible for QTLs may lead to the discovery of pathophysiologic functions of Lith (gallstone) genes. In this review, we present a map of candidate genes for Lith genes that may determine gallstone susceptibility in mice. The physical-chemical, pathophysiologic, and genetic studies of Lith genes in bile, liver, gallbladder, and intestine will be crucial for elucidating the genetic mechanisms of cholesterol gallstone disease in mice and in humans. Because exceptionally close homology exists between mouse and human genomes, the orthologous human LITH genes can often be recognized after mouse genes are identified.

Original languageEnglish (US)
Pages (from-to)140-150
Number of pages11
JournalCurrent Gastroenterology Reports
Volume6
Issue number2
DOIs
StatePublished - Jan 1 2004
Externally publishedYes

Fingerprint

Gallstones
Cholesterol
Genes
Cholelithiasis
Quantitative Trait Loci
Human Genome
Gallbladder
Bile
Intestines
Organism Cloning
Homeostasis
Mutation
Liver

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Genetic analysis of cholesterol gallstone formation : Searching for Lith (gallstone) genes. / Wang, David Q.H.; Afdhal, Nezam H.

In: Current Gastroenterology Reports, Vol. 6, No. 2, 01.01.2004, p. 140-150.

Research output: Contribution to journalReview article

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