Association of APOE-C1 gene cluster polymorphisms with gallstone disease

Digestive and Liver Disease

Volumn 38, Issue 6, 2006, Pages 397-403

  Dixit, M ^a   Choudhuri, G ^a   Mittal, B ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

APOC1 HpaI polymorphism; APOE HhaI polymorphism; APOE C1 haplotype; Gallstone disease; Gene polymorphisms

Indexed keywords

APOLIPOPROTEIN C1; APOLIPOPROTEIN E; DNA;

ADULT; AGED; ALLELE; ARTICLE; CHOLELITHIASIS; CONTROLLED STUDY; FEMALE; GENE AMPLIFICATION; GENE CLUSTER; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SEX DIFFERENCE; STATISTICAL ANALYSIS;

ADULT; APOLIPOPROTEIN C-I; APOLIPOPROTEINS E; CHOLELITHIASIS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; GALLSTONES; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INDIA; MALE; MIDDLE AGED; MULTIGENE FAMILY; POLYMORPHISM, GENETIC;

EID: 33748510158     PISSN: 15908658     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dld.2006.02.005     Document Type: Article

References (37)

1. Harvald B., and Hauge M. A catamnestic investigation of Danish twins: a preliminary report. Dan Med Bull 3 (1956) 151-158
2. Kesaniemi Y.A., Koskenvuo M., Vuoristo M., and Miettinen T.A. Biliary lipid composition in monozygotic and dizygotic pairs of twins. Gut 30 (1989) 1750-1756
3. Hegberg B., Sveunerholm L., and Thoren L. Cholelithiasis in childhood. A follow-up study with special reference to hereditary, constitutional factors and serum lipid. Acta Chir Scand 123 (1962) 307-315
4. Katsika D., Grjibovski A., Einarsson C., Lammert F., Lichtenstein P., and Marschall H.U. Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs. Hepatology 41 (2005) 1138-1143
5. Juvonen T., Kervinen K., Kairaluoma M.I., Lajunen L.H., and Kesaniami Y.A. Gallstone cholesterol content is related to apolipoprotein E polymorphism. Gastroenterology 104 (1993) 1806-1813
6. Scragg R.K., Calvert G.D., and Oliver J.R. Plasma lipids and insulin in gallstone disease: a case control study. Br Med J 289 (1984) 521-525
7. Thijs C., Knipschild P., and Brombacher P. Serum lipid and gallstones: a case control study. Gastroenterology 99 (1990) 843-849
8. Mohr G.C., kritz-Silverstein D., and Barrette-Connor E. Plasma lipids and gallbladder disease. Am J Epidemiol 134 (1991) 78-85
9. Lauer S.J., Walker D., Elshourbagy N.A., Reardon C.A., Levy-Wilson B., and Taylor J.M. Two copies of the human apolipoprotein C1 gene are linked closely to the apolipoprotein E gene. J Biol Chem 263 (1988) 7277-7286
10. Smit M., van der Kooij-Meijs E., Frants R.R., Havekes L., and Klasen E.C. Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic HpaI site associated with type III hyperlipoproteinemia. Hum Genet 78 (1988) 90-93
11. de Knijff P.P., van den Maagdenberg A.M., Frants R.R., and Havekes L.M. Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels. Hum Mutat 4 (1994) 178-194
12. Weisgraber K.H., Innerarity T.L., and Mahley R.W. Abnormal lipoprotein receptor-binding activity of human E apoprotein due to cysteine-arginine interchange at a single site. J Biol Chem 257 (1982) 2518-2521
13. Weintraub M.S., Eisenberg S., and Breslow J.L. Dietary fat clearance in normal subjects is regulated by genetic variation in apolipoprotein E. J Clin Invest 80 (1987) 1571-1577
14. Kesaniemi Y.A., and Miettinen T.A. Metabolic epidemiology of plasma cholesterol. Ann Clin Res 20 (1988) 26-31
15. Utermann G. Morgagni lecture: genetic polymorphism of apolipoprotein E-impact on plasma lipoprotein metabolism. In: Crepaldi G., Tiengo A., and Baggio G. (Eds). Diabetes, obesity and hyperlipidemias (1985), Elsevier, Amsterdam, The Netherlands 1-28
16. Davignon J., Gregg R.E., and Sing C.F. Apolipoprotein E polymorphism, and atherosclerosis. Atherosclerosis 8 (1988) 1-21
17. Bertomeu A., Ros E., Zambon D., Vela M., Perez-Ayuso R.M., Targarona E., et al. Apolipoprotein E polymorphism and gallstones. Gastroenterology 111 (1996) 1603-1610
18. Portincasa P., van Erpecum K.J., van De Meeberg P.C., Dallinga-Thie G.M., de Bruin T.W., and van Berge-Henegouwen G.P. Apolipoprotein E4 genotype and gallbladder motility influence speed of gallstone clearance and risk of recurrence after extracorporeal shock wave lithotripsy. Hepatology 24 (1996) 580-587
19. Niemi M., Kervinen K., Rantala A., Kauma H., Paivansalo M., Savolainen M.J., et al. The role of apolipoprotein E and glucose intolerance in gallstone disease in middle aged subjects. Gut 44 (1999) 557-562
20. Ko C.W., Beresford S.A., Alderman B., Jarvik G.P., Schulte S.J., Calhoun B., et al. Apolipoprotein E genotype and the risk of gallbladder disease in pregnancy. Hepatology 31 (2000) 18-23
21. Fischer S., Dolu M.H., Zundt B., Meyer G., Geisler S., and Jungst D. Apolipoprotein E polymorphism and lithogenic factors in gallbladder bile. Eur J Clin Invest 31 (2001) 789-795
22. Vennaman N.G., vanBerge-Henegouwen G.P., Portincasa P., Stolk M.F., Vos A., Plaisier P.W., et al. Absence of apolipoprotein E4 genotype, good gallbladder motility and presence of solitary stones delay rather than prevent gallstone reccurence after extracorporeal shock wave lithotripsy. J Hepatology 35 (2001) 10-14
23. Hasegawa K., Terada S., Kubota K., Itakura H., Imamura H., Ohnishi S., et al. Effect of apolipoprotein E polymorphism on bile lipid composition and the formation of cholesterol gallstone. Am J Gastroenterol 98 (2003) 1605-1609
24. Jiang Z.Y., Han T.Q., Suo G.J., Feng D.X., Chen S., Cai X.X., 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
25. Smit M., van der Kooij-Meijs E., Woudt L.P., Havekes L.M., and Frants R.R. Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene. Biochem Biophys Res Commun 152 (1988) 1282-1288
26. Klasen E.C., Talmud P.J., Havekes L., de Wit E., van der Kooij-Meijs E., Smit M., et al. A common restriction fragment length polymorphism of the human apolipoprotein E gene and its relationship to type III hyperlipidaemia. Hum Genet 75 (1987) 244-247
27. Waterworth D.M., Hubacek J.A., Pitha J., Kovar J., Poledne R., Humphries S.E., et al. Plasma levels of remnant particles are determined in part by variation in the APOC3 gene insulin response element and the APOCI-APOE cluster. J Lipid Res 41 (2000) 1103-1109
28. Cohn J.S., Tremblay M., Batal R., Jacques H., Veilleux L., Rodriguez C., et al. Plasma kinetics of VLDL and HDL apoC-I in normolipidemic and hypertriglyceridemic subjects. J Lipid Res 43 (2002) 1680-1687
29. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
30. Hixson J.E., and Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31 (1990) 545-548
31. Xu Y., Berglund L., Ramakrishnan R., Mayeux R., Ngai C., Holleran S., et al. A common HpaI RFLP of apoliprotein C-I increases gene transcription and exhibits an ethnically distinct pattern of linkage disequilibrium with the alleles of apolipoprotein E. J Lipid Res 40 (1999) 50-58
32. Ramond M.J., Dumont M., Belghiti J., and Earlinger S. Sensitivity and specificity of microscopic examination of gall bladder bile for gallstone recognition and identification. Gastroenterology 5 (1988) 1339-1343
33. Wang D.Q., and Afdhal N.H. Genetic analysis of cholesterol gallstone formation: searching for Lith (gallstone) genes. Curr Gastroenterol Rep 6 (2004) 140-150
34. Juvonen T., Savolainen M.J., Kairaluoma M.I., Lajunen L.H., Humphries S.E., and Kesaniemi Y.A. 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
35. Tan Y.F., Yang S., Yu R.B., Shen C., Ding W.L., Zhou W.M., et al. Relationship among the XhaI and EcoRI locus polymorphisms of apolipoprotein B gene, serum lipid metabolism and gallstone disease. Zhonghua Yi Xue Za Zhi 83 (2003) 844-847
36. Wilson C., Wardell M.R., Weisgraber K.H., Mahley R.W., and Agard D.A. Three dimensional structure of the LDL receptor binding domain of human apolipoprotein E. Science 252 (1991) 1817-1822
37. Shachter N.S., Rabinowitz D., Stohl S., Conde-Knape K., Cohn J.S., Deckelbaum R.J., et al. The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children. Atherosclerosis 179 (2005) 387-393