ABCB11 transporter gene variant p.A444V and gallstone susceptibility: a combined association and affected sib pair analysis
M Krawczyk, M Wolska-Krawczyk, F Grünhage, M Acalovschi, F Lammert · Zeitschrift für Gastroenterologie · 2009 · Heft 01
Bibliografische Angaben
Zusammenfassung
Introduction: Recent studies have identified common polymorphism of the hepatobiliary transporter gene ABCG8 (p.D19H) as a genetic risk factor for gallstones in humans1,2. To further elucidate the role ABC transporters mutations in gallstones disease, we investigated a common variant of the bile salt export pump (ABCB11) in a combined association (case- control) and affected sib pair (ASP) analysis. Methods: Prospectively, we collected 235 individuals with gallstones (confirmed by ultrasound or cholecystectomy) from 108 families (age 24–80 years, 86% women, BMI 17–49kg/m2) and 260 gallstone-free controls (confir…