The Genetic Background of Cholesterol Gallstone Formation: An Inventory of Human Lithogenic Genes

Title: The Genetic Background of Cholesterol Gallstone Formation: An Inventory of Human Lithogenic Genes

Volume: 5 Issue: 2

Author(s): Frank Lammert and Siegfried Matern

Affiliation:

Keywords: cholecystolithiasis, micelles, phospholipid vesicles, symptomatic gallbladder disease, abc transporter b, p-glycoprotein, knockout mice, orthologous, murine abcb gene

Abstract: Family and twin studies as well as animal studies indicate that gallstone disease is, in part, genetically determined. Recently new single gene defects have been identified in specific patients with cholesterol and pigment gallstones. Examples include low phospholipid-associated cholelithiasis due to mutations of the gene encoding the hepatocanalicular phosphatidylcholine transporter, and pigment stones in association with mutations of the ileal bile salt transporter gene. Here we summarize the evidence for common genetic determinants of human gallstone disease in general and provide an inventory of human lithogenic genes. The precise understanding of such genes and their molecular mechanisms will establish new targets for rational drug design for this exceptionally prevalent and economically significant digestive disease.

Cite this article as:

Lammert Frank and Matern Siegfried, The Genetic Background of Cholesterol Gallstone Formation: An Inventory of Human Lithogenic Genes, Current Drug Targets - Immune, Endocrine & Metabolic Disorders 2005; 5(2) . https://dx.doi.org/10.2174/1568005310505020163