Gallstone disease. Pathogenesis of gallstones: A genetic perspective

Best Practice & Research. Clinical Gastroenterology
Frank Grünhage, Frank Lammert

Abstract

Cholelithiasis is one of the most prevalent gastroenterological diseases, imposing a huge economic burden on health-care systems. Gallbladder stones form when the concentration of cholesterol or bilirubin exceeds the solubility in the bile salt and phospholipid-rich bile. The physiology of biliary lipid secretion by a number of specialized transport proteins has recently been elucidated, and underlying genetic defects in these proteins have been identified as susceptibility factors for gallstone disease. Recent studies of identical twins and family strongly support the idea of a genetic component to gallstone disease. Epidemiological studies in high-risk populations indicate that gallstone formation is caused by multiple environmental influences and common genetic factors and their interactions. Monogenic subtypes of cholelithiasis, such as biliary lipid transporter deficiencies, appear to be rare. The characterization of lithogenic genes in knockout and transgenic mice, and the identification of many gallstone susceptibility loci in inbred mice, provide the basis for studies of the corresponding genes in patients with gallstones. The transfer of findings from mouse genetics to the bedside might lead to new strategies for indiv...Continue Reading

References

Nov 1, 1991·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·M AngelicoM Antonelli
Dec 1, 1989·Gut·Y Antero KesäniemiT A Miettinen
May 1, 1968·The Journal of Clinical Investigation·W H Admirand, D M Small
Dec 1, 1995·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·G NardoneL J Miller
Jan 15, 1999·Journal of Clinical Ultrasound : JCU·W KratzerV Kächele
Feb 25, 1999·Genetic Epidemiology·Ravindranath DuggiralaMichael P Stern
Sep 9, 1999·The New England Journal of Medicine·M F LeitzmannE Giovannucci
May 25, 2002·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·J E EverhartThomas K Welty
May 30, 2002·Annals of Surgery·Attila NakeebHenry A Pitt
Sep 26, 2002·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Martin C Carey, Beverly Paigen
Jan 2, 2003·Proceedings of the National Academy of Sciences of the United States of America·D M Small
Jun 25, 2003·Journal of Hepatology·Karel J van ErpecumDieter Jüngst
Aug 2, 2003·Gastroenterology·Olivier RosmorducRaoul Poupon
Oct 23, 2003·The Journal of Biological Chemistry·Anne FiggeRichard M Green
Jan 31, 2004·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Frank LammertMartin C Carey
Feb 21, 2004·Science·Scott W AltmannMichael P Graziano
Nov 10, 2004·PLoS Biology·Mathew T PletcherTim Wiltshire
Dec 22, 2004·Journal of Gastroenterology and Hepatology·Min-Ho HuangChiu-Kuei Nien
Mar 5, 2005·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Despina KatsikaHanns-Ulrich Marschall
Mar 29, 2005·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Niels G VennemanKarel J van Erpecum
May 17, 2005·Journal of Hepatology·Sandra LancellottiPatrizia Tarugi
Sep 22, 2005·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Helen H Wang, David Q H Wang
Nov 3, 2005·Nature Clinical Practice. Gastroenterology & Hepatology·Frank Lammert, Tilman Sauerbruch
Dec 13, 2005·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Anne HenkelRichard M Green
Jan 10, 2006·American Journal of Human Genetics·Sobha PuppalaRavindranath Duggirala
Feb 2, 2006·Proceedings of the National Academy of Sciences of the United States of America·Jonathan C CohenHelen H Hobbs
Mar 25, 2006·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Hermann E WasmuthFrank Lammert
Jul 24, 2007·Indian Journal of Dermatology, Venereology and Leprology·S Amladi

Citations

Mar 7, 2008·Current Treatment Options in Gastroenterology·Chad I Williams, Eldon A Shaffer
Sep 12, 2008·World Journal of Gastroenterology : WJG·Payam Eghtesadi-AraghiMehdi Saberi-Firoozi
Nov 19, 2010·World Journal of Gastroenterology : WJG·Ali EzerGokhan Moray
May 12, 2012·World Journal of Gastrointestinal Pharmacology and Therapeutics·Piero PortincasaDavid Qh Wang
Jul 18, 2012·Seminars in Pediatric Surgery·Jan Svensson, Erica Makin
Aug 16, 2011·Clinica Chimica Acta; International Journal of Clinical Chemistry·Shih-Chang ChuangSuh-Hang Hank Juo
Jul 7, 2015·Critical Reviews in Food Science and Nutrition·Krishnapura Srinivasan
Jun 19, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Shih-Chang ChuangKing-Teh Lee
Jun 9, 2009·Primary Care·Kavitha Bhat Schelbert
Jul 25, 2018·Biomaterials Research·Byeong Jo Ha, Sangsoo Park

Related Concepts

Metazoa
Biliary Sludge
Cholelithiasis
Mice, Knockout
Twin Studies as Topic
ATP-Binding Cassette Transporters
Common Bile Duct Calculi
Mouse, Swiss

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