A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

S Buch, C Schafmayer, H Völzke, C Becker, A Franke… - Nature …, 2007 - nature.com
With an overall prevalence of 10–20%, gallstone disease (cholelithiasis) represents one of
the most frequent and economically relevant health problems of industrialized countries,. We …

Four susceptibility loci for gallstone disease identified in a meta-analysis of genome-wide association studies

AD Joshi, C Andersson, S Buch, S Stender, R Noordam… - Gastroenterology, 2016 - Elsevier
Background & Aims A genome-wide association study (GWAS) of 280 cases identified the
hepatic cholesterol transporter ABCG8 as a locus associated with risk for gallstone disease …

[PDF][PDF] Increased gallstone risk in humans conferred by common variant of hepatic ATP‐binding cassette transporter for cholesterol

F Grünhage, M Acalovschi, S Tirziu, M Walier… - …, 2007 - Wiley Online Library
Genomewide scans of inbred strains of mice have linked the genes encoding the
hepatocanalicular cholesterol transporter ABCG5/G8 to gallstone formation. Five …

Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype

D Katsika, P Magnusson, M Krawczyk… - Journal of internal …, 2010 - Wiley Online Library
Katsika D, Magnusson P, Krawczyk M, Grünhage F, Lichtenstein P, Einarsson C, Lammert F,
Marschall H‐U (Karolinska University Hospital Huddinge, Karolinska Institutet, Stockholm …

Genetics of gallstone disease

C Rebholz, M Krawczyk… - European journal of clinical …, 2018 - Wiley Online Library
Background Gallstone disease (GD) belongs to the most frequent disorders in
gastroenterology and causes high costs in our health‐care systems. Gallstones are …

[PDF][PDF] Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

O Von Kampen, S Buch, M Nothnagel, L Azocar… - …, 2013 - Wiley Online Library
The sterolin locus (ABCG5/ABCG8) confers susceptibility for cholesterol gallstone disease in
humans. Both the responsible variant and the molecular mechanism causing an increased …

The genetics of complex cholestatic disorders

GM Hirschfield, RW Chapman, TH Karlsen, F Lammert… - Gastroenterology, 2013 - Elsevier
Cholestatic liver diseases are caused by a range of hepatobiliary insults and involve
complex interactions among environmental and genetic factors. Little is known about the …

Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease

KK Kuo, SJ Shin, ZC Chen, YHC Yang… - Journal of British …, 2008 - academic.oup.com
Background Adenosine triphosphate-binding cassette (ABC) transporters ABCG5 and
ABCG8 are sterol export pumps regulating biliary cholesterol excretion. The formation of …

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

E Ferkingstad, A Oddsson, S Gretarsdottir… - Nature …, 2018 - nature.com
Gallstones are responsible for one of the most common diseases in the Western world and
are commonly treated with cholecystectomy. We perform a meta-analysis of two genome …

Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease

I Rudkowska, PJH Jones - Nutrition reviews, 2008 - academic.oup.com
ATP-binding cassette (ABC) transporters function in the homeostasis of lipids. Dysfunction of
ABC transporters is frequently associated with disease. This review examines links between …