Relevance of hereditary defects in lipid transport proteins for the pathogenesis of cholesterol gallstone disease

References

• Attili AF, Carulli N, Roda E, Barbara B, Capocaccia L, Menotti A, et al. Epidemiology of gallstone disease in Italy: prevalence data of the Multicenter Italian Study on Cholelithiasis (M.I.COL.). Am J Epidemiol 1995;141:158–65.
   PubMed Web of Science ®Google Scholar
• Holan KR, Holzbach RT, Hermann RE, Cooperman AM, Claffey WJ. Nucleation time: a key factor in the pathogenesis of cholesterol gallstone disease. Gastroenterology 1979;77:611–7.
   Google Scholar
• Ingelfinger FJ. Digestive disease as a national problem. V. Gallstones. Gastroenterology 1968;55:102–4.
   PubMed Web of Science ®Google Scholar
• Carey MC, Small DM. The physical chemistry of cholesterol solubility in bile. Relation to gallstone formation and dissolution in man. J Clin Invest 1978;61:998–1026.
   PubMed Web of Science ®Google Scholar
• Portincasa P. Gallbladder and bile in health and gallstone disease. The role of motility, gallstones and bile lipid composition. Ph.D. Thesis; Utrecht University; 1995.
   Google Scholar
• Wang DQH, Paigen B, Carey MC. Phenotypic characterization of Lith genes that determine susceptibility to cholesterol cholelithiasis in inbred mice: physical-chemistry of gallbladder bile. J Lipid Res 1997;38: 1395–411.
   Google Scholar
• Portincasa P, Moschetta A, van Erpecum KJ, Calamita G, Margari A, vanBerge-Henegouwen GP, et al. Pathways of cholesterol crystallization in model bile and native bile. Dig Liver Dis 2003;35:118–26.
   Google Scholar
• van Erpecum KJ, Wang DQ-H, Lammert F, Paigen B, Groen AK, Carey MC. Phenotypic characterization of Lith genes that determine susceptibility to cholesterol cholelithiasis in inbred mice: Soluble pronucleating proteins in gallbladder and hepatic biles. J Hepatol 2001;35: 444–51.
   Google Scholar
• van Erpecum KJ, van Berge-Henegouwen GP. Gallstones: an intestinal disease? Gut 1999;44:435–8.
   PubMed Web of Science ®Google Scholar
• Kosters A, Jirsa M, Groen AK. Genetic background of cholesterol gallstone disease. Biochim Biophys Acta 2003;1637:1–19.
   PubMed Web of Science ®Google Scholar
• Tabas I. Cholesterol in health and disease. J Clin Invest 2002; 110:583–90.
   PubMed Web of Science ®Google Scholar
• Goldstein JL, Brown MS. Regulation of the mevalonate pathway. Nature 1990;343:425–30.
   PubMed Web of Science ®Google Scholar
• Chiang JY. Bile acid regulation of hepatic physiology: III. Bile acids and nuclear receptors. Am J Physiol Gastrointest Liver Physiol 2003;284:G349–G56.
   Web of Science ®Google Scholar
• Javitt NB, Pfeffer R, Kok E, Burstein S, Cohen BI, Budai K. Bile acid synthesis in cell culture. J Biol Chem 1989; 264: 10384–7.
   PubMed Web of Science ®Google Scholar
• Javitt NB. Bile acid synthesis from cholesterol: regulatory and auxiliary pathways. FASEB J 1994;8:1308–11.
   PubMed Web of Science ®Google Scholar
• Robins SJ, Fasulo JM, Lessard PD, Patton GM. Hepatic cholesterol synthesis and the secretion of newly synthesized cholesterol in bile. Biochem J 1993;289:41–4.
   PubMed Web of Science ®Google Scholar
• Schwartz CC, Berman M, Vlahcevic ZR, Halloran LG, Gregory DH, Swell L. Multicompartmental analysis of cholesterol metabolism in man. Characterization of the hepatic bile acid and biliary cholesterol precursor sites. J Clin Invest 1978;61: 408–23.
   Google Scholar
• Fuchs M, Ivandic B, Muller O, Schalla C, Scheibner J, Bartsch P, et al. Biliary cholesterol hypersecretion in gallstone- susceptible mice is associated with hepatic up-regulation of the high-density lipoprotein receptor SRBI. Hepatology 2001; 33:1451–9.
   PubMed Web of Science ®Google Scholar
• Rigotti A, Zanlungo S, Miquel JF, Wang DQ. HDL receptor SR-BI and cholesterol gallstones. Hepatology 2002;35:240–2.
   PubMed Web of Science ®Google Scholar
• Fielding CJ, Fielding PE. Molecular physiology of reverse cholesterol transport. J Lipid Res 1995;36:211–28.
   PubMed Web of Science ®Google Scholar
• Glomset JA. The plasma lecithins: cholesterol acyltransferase reaction. J Lipid Res 1968;9:155–67.
   PubMed Web of Science ®Google Scholar
• Thijs C, Knipschild P, Brombacher P. Serum lipids and gallstones: a case-control study. Gastroenterology 1990;99:843–9.
   PubMed Web of Science ®Google Scholar
• Acton S, Rigotti A, Landschulz KT, Xu S, Hobbs HH, Krieger M. Identification of scavenger receptor SR-BI as a high density lipoprotein receptor. Science 1996;271:518–20.
   PubMed Web of Science ®Google Scholar
• Acton SL, Scherer PE, Lodish HF, Krieger M. Expression cloning of SR-BI, a CD36-related class B scavenger receptor. J Biol Chem 1994;269:21003–9.
   PubMed Web of Science ®Google Scholar
• Drobnik W, Lindenthal B, Lieser B, Ritter M, Christiansen WT, Liebisch G, et al. ATP-binding cassette transporter A1 (ABCA1) affects total body sterol metabolism. Gastroenterology 2001;120:1203–11.
   PubMed Web of Science ®Google Scholar
• Krieger M, Kozarsky K. Influence of the HDL receptor SR-BI on atherosclerosis. Curr Opin Lipidol 1999;10:491–7.
   PubMed Web of Science ®Google Scholar
• Krieger M. Charting the fate of the ‘good cholesterol’: identification and characterization of the high-density lipoprotein receptor SR-BI. Annu Rev Biochem 1999;68:523–58.
   PubMed Web of Science ®Google Scholar
• Spady DK, Kearney DM, Hobbs HH. Polyunsaturated fatty acids up-regulate hepatic scavenger receptor B1 (SR-BI) expression and HDL cholesteryl ester uptake in the hamster. J Lipid Res 1999;40: 1384–94.
   Google Scholar
• Mardones P, Quinones V, Amigo L, Moreno M, Miquel JF, Schwarz M, et al. Hepatic cholesterol and bile acid metabolism and intestinal cholesterol absorption in scavenger receptor class B type I-deficient mice. J Lipid Res 2001;42:170–80.
   PubMed Web of Science ®Google Scholar
• Miquel JF, Moreno M, Amigo L, Molina H, Mardones P, Wistuba II, et al. Expression and regulation of scavenger receptor class B type I (SR-BI) in gall bladder epithelium. Gut 2003;52:1017–24.
   PubMed Web of Science ®Google Scholar
• Dean M, Hamon Y, Chimini G. The human ATP-binding cassette (ABC) transporter superfamily. J Lipid Res 2001;42: 1007–17.
   Google Scholar
• Repa JJ, Turley SD, Lobaccaro JA, Medina J, Li L, Lustig K, et al. Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers. Science 2000;289:1524–9.
   PubMed Web of Science ®Google Scholar
• Plosch T, Kok T, Bloks VW, Smit MJ, Havinga R, Chimini G, Groen AK, et al. Increased hepatobiliary and fecal cholesterol excretion upon activation of the liver X receptor is independent of ABCA1. J Biol Chem 2002;277:33870–7.
   PubMed Web of Science ®Google Scholar
• Costet P, Luo Y, Wang N, Tall AR. Sterol-dependent transactivation of the ABC1 promoter by the liver X receptor/retinoid X receptor. J Biol Chem 2000;275:28240–5.
   PubMed Web of Science ®Google Scholar
• Venkateswaran A, Laffitte BA, Joseph SB, Mak PA, Wilpitz DC, Edwards PA, et al. Control of cellular cholesterol efflux by the nuclear oxysterol receptor LXR alpha. Proc Natl Acad Sci USA 2000;97:12097–102.
   PubMed Web of Science ®Google Scholar
• Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 2000; 290: 1771–5.
   PubMed Web of Science ®Google Scholar
• Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet 2001;27:79–83.
   PubMed Web of Science ®Google Scholar
• Lu K, Lee MH, Patel SB. Dietary cholesterol absorption; more than just bile. Trends Endocrinol Metab 2001;12:314–20.
   PubMed Web of Science ®Google Scholar
• Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet 2001;69: 278–90.
   Google Scholar
• Repa JJ, Berge KE, Pomajzl C, Richardson JA, Hobbs H, Mangelsdorf DJ. Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta. J Biol Chem 2002;277:18793–800.
   PubMed Web of Science ®Google Scholar
• Yu L, Hammer RE, Li-Hawkins J, Von Bergmann K, Lutjohann D, Cohen JC, et al. Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion. Proc Natl Acad Sci USA 2002;99: 16237–42.
   Google Scholar
• Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999;22: 336–45.
   Google Scholar
• Remaley AT, Rust S, Rosier M, Knapper C, Naudin L, Broccardo C, et al. Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc Natl Acad Sci USA 1999;96:12685–90.
   PubMed Web of Science ®Google Scholar
• Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999;22:352–5.
   PubMed Web of Science ®Google Scholar
• Brousseau ME, Schaefer EJ, Dupuis J, Eustace B, Van Eerdewegh P, Goldkamp AL, et al. Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds. J Lipid Res 2000;41:433–41.
   PubMed Web of Science ®Google Scholar
• Basso F, Freeman L, Knapper CL, Remaley A, Stonik J, Neufeld EB, et al. Role of the hepatic ABCA1 transporter in modulating intrahepatic cholesterol and plasma HDL cholesterol concentrations. J Lipid Res 2003;44:296–302.
   PubMed Web of Science ®Google Scholar
• Jolley CD, Dietschy JM, Turley SD. Induction of bile acid synthesis by cholesterol and cholestyramine feeding is unimpaired in mice deficient in apolipoprotein AI. Hepatology 2000; 32:1309–16.
   Google Scholar
• Williamson R, Lee D, Hagaman J, Maeda N. Marked reduction of high density lipoprotein cholesterol in mice genetically modified to lack apolipoprotein A-I. Proc Natl Acad Sci USA 1992;89:7134–8.
   PubMed Web of Science ®Google Scholar
• Amigo L, Quinones V, Mardones P, Zanlungo S, Miquel JF, Nervi F, et al. Impaired biliary cholesterol secretion and decreased gallstone formation in apolipoprotein E-deficient mice fed a high cholesterol diet. Gastroenterology 2000; 118: 772–9.
   PubMed Web of Science ®Google Scholar
• Bertomeu A, Ros E, Zambon D, Vela M, Perez-Ayuso RM, Targarona E, et al. Apolipoprotein E polymorphism and gallstones. Gastroenterology 1996;111:1603–10.
   PubMed Web of Science ®Google Scholar
• Fischer S, Dolu MH, Zundt B, Meyer G, Geisler S, Jungst D. Apolipoprotein E polymorphism and lithogenic factors in gallbladder bile. Eur J Clin Invest 2001;31:789–95.
   PubMed Web of Science ®Google Scholar
• Juvonen T, Kervinen K, Kairaluoma MI, Lajunen LH, Kesaniemi YA. Gallstone cholesterol content is related to apolipoprotein E polymorphism. Gastroenterology 1993;104: 1806–13.
   Google Scholar
• van Erpecum KJ, Carey MC. Apolipoprotein E4: another risk factor for cholesterol gallstone formation? Gastroenterology 1996;111:1764–7.
   PubMed Web of Science ®Google Scholar
• Field FJ, Born E, Chen H, Murthy S, Mathur SN. Esterification of plasma membrane cholesterol and triacylglycerol-rich lipoprotein secretion in CaCo-2 cells: possible role of p-glycoprotein. J Lipid Res 1995;36: 1533—43.
   Google Scholar
• Lange Y. Cholesterol movement from plasma membrane to rough endoplasmic reticulum. Inhibition by progesterone. J Biol Chem 1994;269:3411–4.
   PubMed Web of Science ®Google Scholar
• Metherall JE, Waugh K, Li H. Progesterone inhibits cholesterol biosynthesis in cultured cells. Accumulation of cholesterol precursors. J Biol Chem 1996;271:2627–33.
   Google Scholar
• Pentchev PG, Brady RO, Blanchette-Mackie EJ, Vanier MT, Carstea ED, Parker CC, et al. The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. Biochim Biophys Acta 1994;1225:235–43.
   Google Scholar
• Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1997; 277: 228–31.
   PubMed Web of Science ®Google Scholar
• Drab M, Verkade P, Elger M, Kasper M, Lohn M, Lauterbach B, et al. Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice. Science 2001;293: 2449–52.
   PubMed Web of Science ®Google Scholar
• Fielding CJ, Fielding PE. Molecular physiology of reverse cholesterol transport. J Lipid Res 1995;36:211–28.
   PubMed Web of Science ®Google Scholar
• Duane WC. Measurement of bile acid synthesis by three different methods in hypertriglyceridemic and control subjects. J Lipid Res 1997;38:183–8.
   PubMed Web of Science ®Google Scholar
• Goldman M, Vlahcevic ZR, Schwartz CC, Gustafsson J, Swell L. Bile acid metabolism in cirrhosis. VIII. Quantitative evaluation of bile acid synthesis from (7 beta-3H)7 alphahydroxycholesterol and (G-3H)26-hydroxycholesterol. Hepatology 1982;2: 59–66.
   Google Scholar
• Swell L, Gustafsson J, Schwartz CC, Halloran LG, Danielsson H, Vlahcevic ZR. An in vivo evaluation of the quantitative significance of several potential pathways to cholic and chenodeoxycholic acids from cholesterol in man. J Lipid Res 1980;21:455–66.
   PubMed Web of Science ®Google Scholar
• Post SM, Duez H, Gervois PP, Staels B, Kuipers F, Princen HM. Fibrates suppress bile acid synthesis via peroxisome prolif- erator-activated receptor-alpha-mediated downregulation of cholesterol 7alpha-hydroxylase and sterol 27-hydroxylase expression. Arterioscler Thromb Vasc Biol 2001;21:1840–5.
   PubMed Web of Science ®Google Scholar
• Wang HH, Afdhal NH, Wang DQ-H. Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. Proc Natl Acad Sci USA 2001;98:2011–6.
   Google Scholar
• Frijters CM, Ottenhoff R, van Wijland MJ, van Nieuwkerk CM, Groen AK, Oude Elferink RP. Regulation of mdr2 P-glyco- protein expression by bile salts. Biochem J 1997;321:389–95.
   Google Scholar
• Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998;20:233–8.
   PubMed Web of Science ®Google Scholar
• Smit JJM, Schinkel AH, Oude Elferink RPJ, Groen AK, Wagenaar E, van Deemter L, et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993;75: 451–62.
   Google Scholar
• Noe J, Stieger B, Meier PJ. Functional expression of the canalicular bile salt export pump of human liver. Gastroenterology 2002;123:1659–66.
   Google Scholar
• Yu L, Li-Hawkins J, Hammer RE, Berge KE, Horton JD, Cohen JC, Hobbs HH. Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J Clin Invest 2002;110:671–80.
   PubMed Web of Science ®Google Scholar
• Small DM. Role of ABC transporters in secretion of cholesterol from liver into bile. Proc Natl Acad Sci USA 2003;100:4–6.
   PubMed Web of Science ®Google Scholar
• Lammert F, Wang DQH, Paigen B, Carey MC. Phenotypic characterization of Lith genes that determine susceptibility to cholesterol cholelithiasis in inbred mice: integrated activities of hepatic lipid regulatory enzymes. J Lipid Res 1999;40:2080–90.
   PubMed Web of Science ®Google Scholar
• Lammert F, Carey MC, Paigen B. Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map. Gastroenterology 2001;120:221–38.
   Google Scholar
• Khanuja B, Cheah Y-C, Hunt M, Nishina P, Wang DQH, Chen H, et al. Lithl, a major gene affecting cholesterol gallstone formation among inbred strains of mice. Proc Natl Acad Sci USA 1995;92: 7729–33.
   Google Scholar
• Casavant S, Korstanje R, Soroka C, Boyer JL, Carey MC, Paigen B. Overactivity of ABCC2 is a major determinant of murine cholesterol gallstone risk as evidenced by positional; cloning, sequencing and gene target deletion [abstract]. Gastroenterology 2003;124:DDW #460.
   Google Scholar
• Morin E, Mignault DBG. The Abcc2-Lith 2 locus induces hypersensitivity to the biliary lithogenic effect of oestrogens by precipitating the onset of lithogenic bile [abstract]. Gastroenterology 2003;124:DDW # 456.
   Google Scholar
• Kratzer W, Mason RA, Kachele V. Prevalence of gallstones in sonographic surveys worldwide. J Clin Ultrasound 1999;27:1–7.
   PubMed Web of Science ®Google Scholar
• Brett M, Barker DJ. The world distribution of gallstones. Int J Epidemiol 1976;5:335–41.
   PubMed Web of Science ®Google Scholar
• Sampliner RE, Bennett PH, Comess LJ, Rose FA, Burch TA. Gallbladder disease in Pima Indians. Demonstration of high prevalence and early onset by cholecystography. N Engl J Med 1970;283:1358–64.
   Google Scholar
• Miquel JF, Covarrubias C, Villaroel L, Mingrone G, Greco AV, Puglielli L, et al. Genetic epidemiology of cholesterol cholelithiasis among Chilean Hispanics, Amerindians, and Maoris. Gastroenterology 1998;115:937–46.
   PubMed Web of Science ®Google Scholar
• Nervi F, Duarte I, Gomez G, Rodriguez G, Del Pino G, Ferrerio O, et al. Frequency of gallbladder cancer in Chile, a high-risk area. Int J Cancer 1988;41:657–60.
   PubMed Web of Science ®Google Scholar
• Sarin SK, Negi VS, Dewan R, Sasan S, Saraya A. High familial prevalence of gallstones in the first-degree relatives of gallstone patients. Hepatology 1995;22:138–41.
   Google Scholar
• Van der Linden W, Lindelof G. The familial occurrence of gallstone disease. Acta Genet Basel 1965;15:159–64.
   PubMedGoogle Scholar
• Gilat T, Feldman C, Halpern Z, Dan M, Bar-Meir S. An increased familial frequency of gallstones. Gastroenterology 1983;84:242–6.
   PubMed Web of Science ®Google Scholar
• Van der Linden W, Westlin N. The familial occurrence of gallstone disease. II. Occurrence in husbands and wives. Acta Genet Basel 1966;16:377–82.
   PubMedGoogle Scholar
• Harvald M HR. Heredity of gallstones in twins. Dan Med Bull 1956;3:150–8.
   PubMedGoogle Scholar
• Kesaniemi YA, Koskenvuo M, Vuoristo M, Miettinen TA. Biliary lipid composition in monozygotic and dizygotic pairs of twins. Gut 1989;30:1750–6.
   PubMed Web of Science ®Google Scholar
• Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001;120: 1459–67.
   Google Scholar
• Jacquemin E, de Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448–58.
   PubMed Web of Science ®Google Scholar
• Lucena JF, Herrero JI, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003;124: 1037–42.
   Google Scholar
• Fracchia M, Pellegrino S, Secreto P, Gallo L, Masoero G, Pera A, et al. Biliary lipid composition in cholesterol microlithiasis. Gut 2001;48:702–6.
   PubMed Web of Science ®Google Scholar
• Wang DQH, Carey MC. Characterization of crystallization pathways during cholesterol precipitation from human gallbladder bile: identical pathways to corresponding model biles with three predominating sequences. J Lipid Res 1996;37: 2539–49.
   PubMed Web of Science ®Google Scholar
• Portincasa P, van Erpecum KJ, Jansen A, Renooij W, Gadellaa M, vanBerge-Henegouwen GP. Behavior of various cholesterol crystals in bile from patients with gallstones. Hepatology 1996; 23:738–48.
   Google Scholar
• Portincasa P, Venneman NG, Moschetta A, van den Berg A, Palasciano G, vanBerge-Henegouwen GP, van Erpecum KJ. Quantitation of cholesterol crystallization from supersaturated model bile. J Lipid Res 2002;43:604–10.
   Google Scholar
• Pullinger CR, Eng C, Salen G, Shefer S, Batta AK, Erickson SK, et al. Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest 2002;110:109–17.
   PubMed Web of Science ®Google Scholar
• Kesaniemi YA, Ehnholm C, Miettinen TA. Intestinal cholesterol absorption efficiency in man is related to apoprotein E phenotype. J Clin Invest 1987;80:578–81.
   Google Scholar
• Miettinen TA, Gylling H, Vanhanen H, Ollus A. Cholesterol absorption, elimination, and synthesis related to LDL kinetics during varying fat intake in men with different apoprotein E phenotypes. Arterioscler Thromb 1992;12:1044–52.
   PubMed Web of Science ®Google Scholar
• Niemi M, Kervinen K, Rantala A, Kauma H, Paivansalo M, Savolainen MJ, Lilja M, et al. The role of apolipoprotein E and glucose intolerance in gallstone disease in middle aged subjects. Gut 1999;44:557–62.
   PubMed Web of Science ®Google Scholar
• Juvonen T, Savalainen MJ, Kairaluoma MI, Lajunen LHJ, Humphries SE, Kesaniemi YA. Polymorphisms at the apoB, apoA-1, and cholesteryl ester transfer protein gene loci in patients with gallbladder disease. J Lipid Res 1995;36:804–12.
   PubMed Web of Science ®Google Scholar
• van Erpecum KJ, Berge-Henegouwen GP, Eckhardt ER, Portincasa P, Van De Heijning BJ, Dallinga-Thie GM, Groen AK. Cholesterol crystallization in human gallbladder bile: relation to gallstone number, bile composition, and apolipoprotein E4 isoform. Hepatology 1998;27:1508–16.
   PubMed Web of Science ®Google Scholar
• van Erpecum KJ, Portincasa P, Dohlu MH, Berge-Henegouwen GP, Jungst D. Biliary pronucleating proteins and apolipoprotein E in cholesterol and pigment stone patients. J Hepatol 2003;39: 7–11.
   Google Scholar
• Berge KE, Von Bergmann K, Lutjohann D, Guerra R, Grundy SM, Hobbs HH, et al. Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. J Lipid Res 2002;43:486–94.
   PubMed Web of Science ®Google Scholar
• Wang HH, Afdhal NH, Wang DQ-H. Targeted disruption of mucin-gene (muc1) decreases susceptibility to cholesterol gallstone formation in mice [abstract]. Gastroenterology 2003; 124:DDW #115.
   Google Scholar