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Genetics of gallstone disease revisited

updated inventory of human lithogenic genes

Weber, Susanne N.a; Bopp, Carolinea; Krawczyk, Marcina,b; Lammert, Franka

Current Opinion in Gastroenterology: March 2019 - Volume 35 - Issue 2 - p 82–87
doi: 10.1097/MOG.0000000000000511
BILIARY TRACT: Edited by Chantal Housset

Purpose of review Gallstone disease is one of the most frequent diseases in gastroenterology and treatment by endoscopy and surgery causes high costs in our health-care systems. Family and twin studies have demonstrated that gallstones are, in part, genetically determined. Here we review all recent genome-wide and phenome-wide studies of gallstones in humans and provide an updated ‘inventory of human lithogenic genes.’

Recent findings The largest population attributable risk is conferred by the common variant (p.D19H) of the hepatic and intestinal cholesterol transporter ABCG5/G8. A second ABC transporter, the hepatic phosphatidylcholine translocase ABCB4, increases the risk for gallstone disease, gallbladder cancer and chronic liver diseases in general, whereas the common PNPLA3 risk variant p.I148M decreases gallstone risk.

Summary Better understanding of the pathomechanisms of gallstone disease might help to overcome the current invasive treatment of this exceptionally prevalent and economically significant digestive disease by personalized prevention in at-risk patients.

aDepartment of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany

bLaboratory of Metabolic Liver Diseases, Centre for Preclinical Research, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland

Correspondence to Prof Dr Frank Lammert, MD, Department of Medicine II, Saarland University Medical Center, Saarland University, Kirrberger Street 100, D 66421 Homburg, Germany. Tel: +49 6841 16 15021; fax: +49 6841 16 15022; e-mail:

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