Frequent polymorphism p.D19 H of the biliary cholesterol transporter ABCG5/8 increases the risk of gallstone disease in children
M Krawczyk, O Niewiadomska, I Jankowska, K Jankowski, J Gozdowska, D Lebensztejn, S Wiecek, F Lammert, P Socha · Zeitschrift für Gastroenterologie · 2016 · Heft 08
Bibliografische Angaben
Zusammenfassung
Introduction: Genetic studies demonstrated that gallstones in adults are frequent in carriers of the p.D19 H variant in the hepatobiliary cholesterol transporter ABCG5/8. Presence of the Gilbert polymorphism in the UGT1A1 gene further increases this risk. The genetic background of common lithiasis in children has yet to be defined. Hence we investigated the role of the ABCG8 and UGT1A1*28 variants in the development of gallstones in paediatric patients. Materials and methods: In total 214 children with gallstone disease (age at diagnosis 1 month – 17 years, 107 males) were recruited. Children with history of tot…
