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

被引：84

作者：

Wang D.Q.-H. ^{[1
]}

Afdhal N.H. ^{[1
]}

机构：

[1] Liver Center, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215

来源：

Current Gastroenterology Reports | 2004年 / 6卷 / 2期

基金：

美国国家卫生研究院;

关键词：

Quantitative Trait Locus; Bile Salt; Quantitative Trait Locus Analysis; Gallstone Formation; Cholesterol Gallstone;

D O I：

10.1007/s11894-004-0042-1

中图分类号：

学科分类号：

摘要：

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. Copyright © 2004 by Current Science Inc.

引用

页码：140 / 150

页数：10

共 87 条

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