Gallbladder disease

Definition:

Gallbladder disease is one of the most common digestive disorders. Cholecystitis is an inflammation of the gallbladder wall, that is almost always associated with cholelithiasis, or gallstones. Cholecystitis and cholelithiasis appear to be caused by the actions of several genes and environment working together. It has been reported that an ABCB4 mutation which causes a deficiency in biliary phosphatidylcholine secretion is associated with gallstones. Recently, several common DNA polymorphisms in the ABCG8 gene were discovered that are associated with gallstone disease.

References:

[1]. G P vanBerge-Henegouwen, et al. Relevance of hereditary defects in lipid transport proteins for the pathogenesis of cholesterol gallstone disease. Scand J Gastroenterol Suppl. 2004;(241):60-9. [Content Brief]

[2]. Olivier Rosmorduc, et al. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis. 2007 Jun 11;2:29. [Content Brief]

[3]. Siva Prasad Siddapuram, et al. Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population. J Gastroenterol Hepatol. 2010 Jun;25(6):1093-8. [Content Brief]

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