Role of the ABCG8 19H risk allele in cholesterol absorption and gallstone disease.

Background: Gallstone disease is associated with p.D19H of ABCG8 as well as alterations of cholesterol and bile acid metabolism. However, molecular mechanisms have not been fully elucidated.

MALDI-TOF mass spectrometry screening of cholelithiasis risk markers in the gene of HNF1alpha.

In recent years MALDI-TOF MS gained importance for high-throughput DNA analysis. In the present study this technique was used for the pathogenetic analysis of gallstone disease. The intestinal apical sodium-dependent bile acid transporter (ASBT) shows a genetic association with gallstone disease.

Diminished expression of apical sodium-dependent bile acid transporter in gallstone disease is independent of ileal inflammation.

Background: Non-obese gallstone patients exhibit a diminished expression of apical sodium-dependent bile acid transporter (ASBT) in terminal ileum. Crohn's ileitis demonstrates a significant downregulation of this transporter.

Aim: To test whether subclinical ileal inflammation contributes to gallstone disease.

Reduced ileal expression of OSTalpha-OSTbeta in non-obese gallstone disease.

Cholelithiasis is a multifactorial process, and several mechanisms have been postulated. A decreased expression of the ileal apical sodium-dependent bile acid transporter (ASBT) and of the cytosolic ileal lipid binding protein (ILBP) was recently described in female non-obese patients. The role of the recently identified organic solute transporters alpha and beta (OSTalpha, OSTbeta) in gallstone pathogenesis remains unclear.