The hepatic cholesterol transporter gene ABCG8 confers increased gallstone risk in humans: combined affected sib pair and association study
F Grünhage, M Acalovschi, S Tirziu, M Walier, TF Wienker, A Ciocan, T Sauerbruch, F Lammert · Zeitschrift für Gastroenterologie · 2007 · Heft 09
Bibliografische Angaben
Zusammenfassung
Introduction: Genome-wide scans in inbred strains of mice have linked the genes encoding the hepatocanalicular cholesterol transporter ABCG5/G8 to gallstone formation. Five nonsynonymous coding single nucleotide polymorphisms (SNPs) in the orthologous human genes are associated with differences in serum cholesterol and plant sterol levels. We now tested these ABCG5/G8 SNPs for linkage and association with gallstone susceptibility in humans. Methods: We collected 178 Caucasian affected siblings with gallbladder stones or past history of cholecystectomy and 70 stone-free controls, as confirmed by abdominal ultraso…
