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

ABSTRACT:

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. It is important to understand the link between the sterol transporters ABCG5/8 and NPC1L1 and intestinal cholesterol absorption as well as de novo synthesis in gallstone patients stratified according to 19H risk allele. Moreover, the functional importance of the 19H variant on intestinal ABCG8 feature remains to be clarified.

Methods

Measurements of serum surrogate markers of cholesterol absorption (plant sterols: sitosterol, campesterol) and synthesis (cholesterol precursor: lathosterol) were carried out by gas chromatography/mass spectrometry (GC/MS). For expression studies, total RNA w

SUBMITTER: Renner O 

PROVIDER: S-EPMC3598676 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature