The genetic background of gallstone formation: an update.
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.
Marschall
Hanns-Ulrich
HU
Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital at Huddinge, S-14186 Stockholm, Sweden. hanns-ulrich.marschall@ki.se
Katsika
Despina
D
Rudling
Mats
M
Einarsson
Curt
C
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
D018435:ATP Binding Cassette Transporter, Subfamily B; D001654:Bile Pigments; C095122:multidrug resistance protein 3