title: The genetic background of gallstone formation: an update.
abstract: Gallstone disease is one of the most prevalent gastrointestinal diseases with a substantial burden to health care systems that is expected to increase in ageing populations at risk. This review summarizes recent data on the genetic background of cholesterol gallstones and the role of biliary lipid composition. Three previously unknown non-synonymous mutations in the ABCB4 gene encoding the hepatobiliary phospholipid-flippase MDR3 are presented.
authors.affiliation: Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital at Huddinge, S-14186 Stockholm, Sweden. hanns-ulrich.marschall@ki.se
authors.forename: Hanns-Ulrich
authors.initials: HU
authors.lastname: Marschall
authors.forename: Despina
authors.initials: D
authors.lastname: Katsika
authors.forename: Mats
authors.initials: M
authors.lastname: Rudling
authors.forename: Curt
authors.initials: C
authors.lastname: Einarsson
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D001654:Bile Pigments / Q000378:metabolism*; D042882:Gallstones / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; D001654:Bile Pigments; C095122:multidrug resistance protein 3