Increased gallstone risk in humans conferred by common variant of hepatic ATP‐binding cassette transporter for cholesterol
Frank Grünhage, Monica Acalovschi, Simona Tirziu, Maja Walier, Thomas F. Wienker, Anca Ciocan, Ofelia Mosteanu, Tilman Sauerbruch, Frank Lammert – 24 August 2007 – Genomewide scans of 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.