Erratum to 'Pathogenesis of gallstones: a genetic perspective' [Best Practice & Research Clinical Gastroenterology 20 (2006) 997-1015] (DOI:10.1016/j.bpg.2006.05.007);Pathogenesis of gallstones: a genetic perspective

Best Practice and Research: Clinical Gastroenterology

Volumn 20, Issue 6, 2006, Pages 997-1015

  Grünhage, Frank ^b   Lammert, Frank ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b NONE

Author keywords

ABC transporters; cholelithiasis; gallstones; genetic studies; lithogenic genes

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER B11; ABC TRANSPORTER B4; ABC TRANSPORTER G5; ABC TRANSPORTER G8; ACETYLSALICYLIC ACID; APOLIPOPROTEIN E2; APOLIPOPROTEIN E3; APOLIPOPROTEIN E4; BILE SALT; BILIRUBIN; CHOLECYSTOKININ A RECEPTOR; CHOLESTEROL; CHOLESTEROL 7ALPHA MONOOXYGENASE; CHOLESTEROL ESTER TRANSFER PROTEIN; LIPID TRANSFER PROTEIN; MITOCHONDRIAL DNA; NONSTEROID ANTIINFLAMMATORY AGENT; PHOSPHATIDYLCHOLINE; PHOSPHOLIPID; STEROL 27 HYDROXYLASE; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

ARTICLE; CHOLELITHIASIS; CHOLESTEROL STONE; DISEASE CLASSIFICATION; EPIDEMIOLOGICAL DATA; FAMILY; GALLSTONE FORMATION; GASTROINTESTINAL DISEASE; GENE INTERACTION; GENETIC SUSCEPTIBILITY; HEALTH ECONOMICS; HIGH RISK PATIENT; HUMAN; INDIVIDUALIZATION; KNOCKOUT MOUSE; LINKAGE ANALYSIS; LIPID TRANSPORT; MOLECULAR GENETICS; MONOZYGOTIC TWINS; NONHUMAN; PATHOGENESIS; PREVALENCE; PROTEIN DEFICIENCY; RISK ASSESSMENT; TRANSGENIC MOUSE; ANIMAL; BILE; CHEMISTRY; FEMALE; GALLSTONE; GENETICS; MALE; METABOLISM; MOUSE; MOUSE MUTANT; PATHOPHYSIOLOGY; REVIEW; RISK FACTOR; TWINS;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; BILE; CHOLELITHIASIS; FEMALE; GALLSTONES; HUMANS; MALE; MICE; MICE, KNOCKOUT; RISK FACTORS; TWIN STUDIES;

EID: 33751299080     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2007.05.001     Document Type: Erratum

References (82)

1. Lammert F., and Sauerbruch T. Mechanisms of disease: the genetic epidemiology of gallbladder stones. Nat Clin Pract Gastroenterol Hepatol 2 (2005) 423-433
2. Völzke H., Baumeister S.E., Alte D., et al. Independent risk factors for gallstone formation in a region with high cholelithiasis prevalence. Digestion 71 (2005) 97-105
3. Liver Disease Subcommittee of the Digestive Diseases Interagency Coordinating Committee. Gallbladder and biliary disease. In: National Institutes of Health (Ed). Action Plan for Liver Disease Research (2004), National Institutes of Health, Bethesda 145-150
4. Sandler R.S., Everhart J.E., Donowitz M., et al. The burden of selected digestive diseases in the United States. Gastroenterology 122 (2002) 1500-1511
5. Carey M.C., and LaMont J.T. Cholesterol gallstone formation. 1. Physical-chemistry of bile and biliary lipid secretion. Prog Liver Dis 10 (1992) 136-163
6. Small D.M. Role of ABC transporters in secretion of cholesterol from liver into bile. Proc Natl Acad Sci U S A 100 (2003) 4-6
7. Oude Elferink R.P., Paulusma C.C., and Groen A.K. Hepatocanalicular transport defects: pathophysiologic mechanisms of rare diseases. Gastroenterology 130 (2006) 908-925
8. Paumgartner G., and Sauerbruch T. Gallstones: pathogenesis. Lancet 338 (1991) 1117-1121
9. Admirand W.H., and Small D.M. The physicochemical basis of cholesterol gallstone formation in man. J Clin Invest 47 (1968) 1045-1052
10. Carey M.C. Critical tables for calculating the cholesterol saturation of native bile. J Lipid Res 19 (1978) 945-955
11. Vlahcevic Z.R., Bell C.C., Buhac I., et al. Diminished bile acid pool size in patients with gallstones. Gastroenterology 59 (1970) 165-173
12. Thomas L.A., Veysey M.J., Murphy G.M., et al. Octreotide induced prolongation of colonic transit increases faecal anaerobic bacteria, bile acid metabolising enzymes, and serum deoxycholic acid in patients with acromegaly. Gut 54 (2005) 630-635
13. Berr F., Kullak-Ublick G.A., Paumgartner G., et al. 7alpha-hydroxylating bacteria enhance deoxycholic acid input and cholesterol saturation of bile in patients with gallstones. Gastroenterology 111 (1986) 1611-1620
14. Paigen B., and Carey M.C. Gallstones. In: King R.A., Rotter J.F., and Motulsky A.G. (Eds). The Genetic Basis of Common Diseases (2002), Oxford University Press, London 298-335
15. Moschetta A., Bookout A.L., and Mangelsdorf D.J. Prevention of cholesterol gallstone diseases by FXR agonists in a mouse model. Nat Med 10 (2004) 1352-1358
16. Buhman K.K., Accad M., Novak S., et al. Resistance to diet-induced hypercholesterolemia and gallstone formation in ACAT2-deficient mice. Nat Med 6 (2000) 1341-1347
17. Lammert F., Carey M.C., and Paigen B. Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map. Gastroenterology 120 (2001) 221-238
18. Wang D.Q., Schmitz F., Kopin A.S., et al. Targeted disruption of the murine cholecystokinin-1 receptor promotes intestinal cholesterol absorption and susceptibility to cholesterol cholelithiasis. J Clin Invest 114 (2004) 521-528
19. Holzbach R.T., and Busch N. Nucleation and growth of cholesterol crystals. Kinetic determinants in supersaturated native bile. Gastroenterol Clin North Am 20 (1991) 67-84
20. Jirsa M., and Groen A.K. Role of biliary proteins and non-protein factors in kinetics of cholesterol crystallization and gallstone growth. Front Biosci 6 (2001) E154-E167
21. Ko C.W., Sekijima J.H., and Lee S.P. Biliary sludge. Ann Intern Med 130 (1999) 301-311
22. Lee S.P., Carey M.C., and LaMont J.T. Aspirin prevention of cholesterol gallstone formation in prairie dogs. Science 211 (1981) 1429-1431
23. Maurer K.J., Ihrig M.M., Rodgers A.B., et al. Identification of cholelithogenic enterohepatic Helicobacter species and their role in murine cholesterol gallstone formation. Gastroenterology 128 (2005) 1023-1033
24. Brink M.A., Slors J.F., Keulemans Y.C., et al. Enterohepatic cycling of bilirubin: a putative mechanism for pigment gallstone formation in ileal Crohn's disease. Gastroenterology 116 (1999) 1420-1427
25. Huang M.H., Chen C.H., Yen C.M., et al. Relation of hepatolithiasis to helminthic infestation. J Gastroenterol Hepatol 20 (2005) 141-146
26. Tham T.C., and Kelly M. Association of periampullary duodenal diverticula with bile duct stones and with technical success of endoscopic retrograde cholangiopancreatography. Endoscopy 36 (2004) 1050-1053
27. Kratzer W., Mason R.A., and Kachele V. Prevalence of gallstones in sonographic surveys worldwide. J Clin Ultrasound 27 (1999) 1-7
28. Tsai C.J., Leitzmann M.F., Willett W.C., et al. Glycemic load, glycemic index, and carbohydrate intake in relation to risk of cholecystectomy in women. Gastroenterology 129 (2005) 105-112
29. Leitzmann M.F., Rimm E.B., Willett W.C., et al. Recreational physical activity and the risk of cholecystectomy in women. N Engl J Med 341 (1999) 777-784
30. Boland L.L., Folsom A.R., and Rosamond W.D. Hyperinsulinemia, dyslipidemia, and obesity as risk factors for hospitalized gallbladder disease. A prospective study. Ann Epidemiol 12 (2002) 131-140
31. Tsai C.J., Leitzmann M.F., Willett W.C., et al. Prospective study of abdominal adiposity and gallstone disease in US men. Am J Clin Nutr 80 (2004) 38-44
32. Kern F. Effects of dietary cholesterol on cholesterol and bile acid homeostasis in patients with cholesterol gallstones. J Clin Invest 93 (1994) 1186-1194
33. Lammert F., and Wang D.Q. New insights into the genetic regulation of intestinal cholesterol absorption. Gastroenterology 129 (2005) 718-734
34. Schwarz M., Russell D.W., Dietschy J.M., et al. Alternate pathways of bile acid synthesis in the cholesterol 7alpha-hydroxylase knockout mouse are not upregulated by either cholesterol or cholestyramine feeding. J Lipid Res 42 (2001) 1594-1603
35. Repa J.J., Lund E.G., Horton J.D., et al. Disruption of the sterol 27-hydroxylase gene in mice results in hepatomegaly and hypertriglyceridemia. Reversal by cholic acid feeding. J Biol Chem 275 (2000) 39685-39692
36. Altmann S.W., Davis H.R., Zhu L., et al. Niemann-Pick C1 like 1 protein is critical for intestinal cholesterol absorption. Science 303 (2004) 1201-1204
37. Cohen J.C., Pertsemlidis A., Fahmi S., et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A 103 (2006) 1810-1815
38. Everhart J.E., Yeh F., Lee E.T., et al. Prevalence of gallbladder disease in American Indian populations: findings from the Strong Heart Study. Hepatology 35 (2002) 1507-1512
39. Sampliner R.E., Bennett P.H., Comess L.J., et al. Gallbladder disease in Pima indians. Demonstration of high prevalence and early onset by cholecystography. N Engl J Med 283 (1970) 1358-1364
40. Carey M.C., and Paigen B. Epidemiology of the American Indians' burden and its likely genetic origins. Hepatology 36 (2002) 781-791
41. Everhart J.E., Khare M., Hill M., et al. Prevalence and ethnic differences in gallbladder disease in the Unites States. Gastroenterology 117 (1999) 632-639
42. Miquel J.F., Covarrubias C., Villaroel L., et al. Genetic epidemiology of cholesterol cholelithiasis among Chilean Hispanics, Amerindians, and Maoris. Gastroenterology 115 (1998) 937-946
43. Galman C., Miquel J.F., Perez R.M., et al. Bile acid synthesis is increased in Chilean Hispanics with gallstones and in gallstone high-risk Mapuche Indians. Gastroenterology 126 (2004) 741-748
44. Bergheim I., Harsch S., Müller O., et al. Apical sodium bile acid transporter and ileal lipid binding protein in gallstone carriers. J Lipid Res 47 (2006) 42-50
45. Katsika D., Grjibovski A., Einarsson C., et al. Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs. Hepatology 41 (2005) 1138-1143
46. Kesäniemi Y.A., Koskenvuo M., Vuoristo M., et al. Biliary lipid composition in monozygotic and dizygotic pairs of twins. Gut 30 (1989) 1750-1756
47. Duggirala R., Mitchell B.D., Blangero J., et al. Genetic determinants of variation in gallbladder disease in the Mexican-American population. Genet Epidemiol 16 (1999) 191-204
48. Puppala S., Dodd G.D., Fowler S., et al. A genomewide search finds major susceptibility loci for gallbladder disease on chromosome 1 in Mexican Americans. Am J Hum Genet 78 (2006) 377-392
49. Nakeeb A., Comuzzie A.G., Martin L., et al. Gallstones: genetics versus environment. Ann Surg 235 (2002) 842-849
50. Rosmorduc O., Hermelin B., Boelle P.Y., et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 125 (2003) 452-459
51. Venneman N.G., Renooij W., Rehfeld J.F., et al. Small gallstones, preserved gallbladder motility, and fast crystallization are associated with pancreatitis. Hepatology 41 (2005) 738-746
52. -/- mice: a model for low phospholipid-associated cholelithiasis. Hepatology 39 (2004) 117-128
53. Van Mil S.W., van der Woerd W.L., van der Brugge G., et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 127 (2004) 379-384
54. Pullinger C.R., Eng C., Salen G., et al. Human cholesterol 7a-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest 110 (2002) 109-117
55. Jiang Z.Y., Han T.Q., Suo G.J., et al. Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease. World J Gastroenterol 10 (2004) 1508-1512
56. Miyake J.H., Duong-Polk X.T., Taylor J.M., et al. Transgenic expression of cholesterol 7a-hydroxylase prevents atherosclerosis in C57BL/6J mice. Arterioscler Thromb Vasc Biol 22 (2002) 121-126
57. Lancellotti S., Zaffanello M., Di Leo E., et al. Pediatric gallstone disease in familial hypobetalipoproteinemia. J Hepatol 43 (2005) 188-191
58. Han T., Jiang Z., Suo G., et al. Apolipoprotein B-100 gene XbaI polymorphism and cholesterol gallstone disease. Clin Genet 57 (2000) 304-308
59. Juvonen T., Savolainen M.J., Kairaluoma M.I., et al. Polymorphisms at the apoB, apoA-I, and cholesteryl ester transfer protein gene loci in patients with gallbladder disease. J Lipid Res 36 (1995) 804-812
60. Singh M.K., Pandey U.B., Ghoshal U.C., et al. Apolipoprotein B-100 XbaI gene polymorphism in gallbladder cancer. Hum Genet 114 (2004) 280-283
61. Miller L.J., Holicky E.L., Ulrich C.D., et al. Abnormal processing of the human cholecystokinin receptor gene in association with gallstones and obesity. Gastroenterology 109 (1995) 1375-1380
62. Schneider H., Sanger P., and Hanisch E. In vitro effects of cholecystokinin fragments on human gallbladders. Evidence for an altered CCK-receptor structure in a subgroup of patients with gallstones. J Hepatol 26 (1997) 1063-1068
63. Nardone G., Ferber I.A., and Miller L.J. The integrity of the cholecystokinin receptor gene in gallbladder disease and obesity. Hepatology 22 (1995) 1751-1753
64. Miyasaka K., Takata Y., and Funakoshi A. Association of cholecystokinin A receptor gene polymorphism with cholelithiasis and the molecular mechanisms of this polymorphism. J Gastroenterol 37 (2002) S102-S106
65. OMIM database.http://www.ncbi.nlm.nih.gov/entrez/.
66. Angelico M., Gandin C., Canuzzi P., et al. Gallstones in cystic fibrosis: a critical reappraisal. Hepatology 14 (1991) 768-775
67. Wasmuth H.E., Keppeler H., Herrmann U., et al. Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis. Hepatology 43 (2006) 738-741
68. Del Giudice E.M., Perrotta S., Nobili B., et al. Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 94 (1999) 2259-2262
69. Chaar V., Keclard L., Diara J.P., et al. Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia. Haematologica 90 (2005) 188-199
70. Premawardhena A., Fisher C.A., Fathiu F., et al. Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. Lancet 357 (2001) 1945-1946
71. Wittenburg H., Lyons M.A., Li R., et al. FXR and ABCG5/ABCG8 as determinants of cholesterol gallstone formation from quantitative trait locus mapping in mice. Gastroenterology 125 (2003) 868-881
72. Pletcher M.T., McClurg P., Batalov S., et al. Use of a dense single nucleotide polymorphism map for in silico mapping in the mouse. PLoS Biol 2 (2004) e393
73. QTL Resources. http://pga.jax.org/qtl.
74. Bertomeu A., Ros E., Zambon D., et al. Apolipoprotein E polymorphism and gallstones. Gastroenterology 111 (1996) 1603-1610
75. Niemi M., Kervinen K., Rantala A., et al. The role of apolipoprotein E and glucose intolerance in gallstone disease in middle aged subjects. Gut 44 (1999) 557-562
76. Amigo L., Quinones V., Mardones P., et al. Impaired biliary cholesterol secretion and decreased gallstone formation in apolipoprotein E-deficient mice fed a high-cholesterol diet. Gastroenterology 118 (2000) 772-779
77. Van Erpecum K.J., Portincasa P., Dohlu M.H., et al. Biliary pronucleating proteins and apolipoprotein E in cholesterol and pigment stone patients. J Hepatol 39 (2003) 7-11
78. Venneman N.G., van Berge-Henegouwen G.P., Portincasa P., et al. Absence of apolipoprotein E4 genotype, good gallbladder motility and presence of solitary stones delay rather than prevent gallstone recurrence after extracorporeal shock wave lithotripsy. J Hepatol 35 (2001) 10-16
79. Lucena J.F., Herrero J.I., Quiroga J., et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 124 (2003) 1037-1042
80. Figge A., Lammert F., Paigen B., et al. Hepatic overexpression of murine Abcb11 increases hepatobiliary lipid secretion and reduces hepatic steatosis. J Biol Chem 279 (2004) 2790-2799
81. Henkel A., Wei Z., Cohen D.E., et al. Mice overexpressing hepatic Abcb11 rapidly develop cholesterol gallstones. Mamm Genome 16 (2005) 903-908
82. Wang H.H., and Wang D.Q. Reduced susceptibility to cholesterol gallstone formation in mice that do not produce apolipoprotein B48 in the intestine. Hepatology 42 (2005) 894-904