The genetic background of gallstone formation: an update.

Hanns-Ulrich Marschall, Despina Katsika, Mats Rudling, Curt Einarsson

Journal: Biochemical and biophysical research communications 2010;396(1):58-62

PMID: 20494111

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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.

Address: Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital at Huddinge, S-14186 Stockholm, Sweden. [email protected]

DOI: 10.1016/j.bbrc.2010.02.143

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MeSH Terms: ATP Binding Cassette Transporter, Subfamily B, Bile Pigments, Gallstones, Genetic Predisposition to Disease, Humans