TY - JOUR
T1 - Genetic analysis of cholesterol gallstone formation
T2 - Searching for Lith (gallstone) genes
AU - Wang, David Q.H.
AU - Afdhal, Nezam H.
N1 - Funding Information:
Dr. Wang is a recipient of a New Scholar Award from the Ellison Medical Foundation (1999–2003). This work is supported in part by the Ellison Medical Foundation (Wang), as well as research grants DK 54012 (Wang) and DK 54012 (Afdhal) from the National Institutes of Health.
PY - 2004/4
Y1 - 2004/4
N2 - 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.
AB - 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.
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U2 - 10.1007/s11894-004-0042-1
DO - 10.1007/s11894-004-0042-1
M3 - Review article
C2 - 15191694
AN - SCOPUS:3042538231
SN - 1522-8037
VL - 6
SP - 140
EP - 150
JO - Current Gastroenterology Reports
JF - Current Gastroenterology Reports
IS - 2
ER -
