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

doi:10.1002/hep.26009

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Article

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

Hepatology (Baltimore, Md.) - 1 Jun 2013

von Kampen Oliver, Buch Stephan, Nothnagel Michael, Azocar Lorena, Molina Hector, Brosch Mario, Erhart Wiebke, von Schönfels Witigo, Egberts Jan, Seeger Marcus, Arlt Alexander, Balschun Tobias, Franke Andre, Lerch Markus M, Mayerle Julia, Kratzer Wolfgang, Boehm Bernhard O, Huse Klaus, Schniewind Bodo, Tiemann Katharina, Jiang Zhao-Yan, Han Tian-Quan, Mittal Balraj, Srivastava Anshika, Fenger Mogens, Jørgensen Torben, Schirin-Sokhan Ramin, Tönjes Anke, Wittenburg Henning, Stumvoll Michael, Kalthoff Holger, Lammert Frank, Tepel Jürgen, Puschel Klaus, Becker Thomas, Schreiber Stefan, Platzer Matthias, Völzke Henry, Krawczak Michael, Miquel Juan Francisco, Schafmayer Clemens, Hampe Jochen

Abstract excerpt

UNLABELLED: The sterolin locus (ABCG5/ABCG8) confers susceptibility for cholesterol gallstone disease in humans. Both the responsible variant and the molecular mechanism causing an increased incidence of gallstones in these patients have as yet not been identified. Genetic mapping utilized patient samples from Germany (2,808 cases, 2,089 controls), Chile (680 cases, 442 controls), Denmark (366 cases, 766...

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Identifiers

PMID: 22898925
DOI: 10.1002/hep.26009

Genes

ABCG5
ABCG8

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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