Association of apolipoprotein A1-C3 gene cluster polymorphisms with gallstone disease

Canadian Journal of Gastroenterology

Volumn 21, Issue 9, 2007, Pages 569-575

  Dixit, Manjusha ^a   Choudhuri, Gourdas ^a   Saxena, Rajan ^a   Mittal, Balraj ^a  

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

Author keywords

APOA1 MspI polymorphism; APOA1 C3 haplotype; APOC3 SstI polymorphism; Gallstone disease; Gene polymorphisms

Indexed keywords

ADENINE; APOLIPOPROTEIN A1; APOLIPOPROTEIN C3; GENOMIC DNA; GUANINE; RESTRICTION ENDONUCLEASE;

ADULT; AGE DISTRIBUTION; ALLELE; ARTICLE; CASE CONTROL STUDY; CHOLELITHIASIS; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE CLUSTER; GENE LOCUS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEX DIFFERENCE; STATISTICAL ANALYSIS; SWITZERLAND;

EID: 35548980828     PISSN: 08357900     EISSN: None     Source Type: Journal    
DOI: 10.1155/2007/329342     Document Type: Article

References (37)

1. Lowenfels AB, Lindstrom CG, Conway MJ, Hastings PR. Gallstones and risk of gallbladder cancer. J Natl Cancer Inst 1985;75:77-80.
2. Lowenfels AB, Walker AM, Althaus DP, Townsend G, Domellof L. Gallstone growth, size, and risk of gallbladder cancer: An interracial study. Int J Epidemiol 1989;18:50-4.
3. Maringhini A, Moreau JA, Melton LJ III, Hench VS, Zinsmeister AR, DiMagno EP. Gallstones, gallbladder cancer, and other gastrointestinal malignancies: An epidemiologic study in Rochester, Minnesota. Ann Intern Med 1987;107:30-5.
4. Harvald B, Hauge M. A catamnestic investigation of Danish twins; a preliminary report. Dan Med Bull 1956;3:150-8.
5. Katsika D, Grjibovski A, Einarsson C, Lammert F, Lichtenstein F, Marschall HU. Genetic and environmental influences on symptomatic gallstone disease: A Swedish study of 43,141 twin pairs. Hepatology 2005;41:1138-43.
6. Hagberg B, Svennerholm L, Thoren L. Cholelithiasis in childhood: A follow-up study with special reference to hereditary, constitutional factors and serum lipids. Acta Chir Scand 1962;123:307-15.
7. Scragg RK, Calvert GD, Oliver JR. Plasma lipids and insulin in gallstone disease: A case-control study. Br Med J (Clin Res Ed) 1984;289:521-5.
8. Mohr GC, Kritz-Silverstein D, Barrette-Connor E. Plasma lipids and gallbladder disease. Am J Epidemiol 1991;134:78-85.
9. Thijs C, Knipschild P, Brombacher P. Serum lipid and gallstones: A case-control study. Gastroenterology 1990;99:843-9.
10. Brown MS, Goldstein JL. Lipoprotein receptors in the liver. Control signals for plasma cholesterol traffic. J Clin Invest 1983;72:743-7.
11. Gagnon F, Jarvik GF, Motulsky AG, Deeb SS, Brunzell JD, Wijsman EM. Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment. Hum Genet 2003;113:522-33.
12. Reichl D, Miller NE. Pathophysiology of reverse cholesterol transport. Insights from inherited disorders of lipoprotein metabolism. Arteriosclerosis 1989;9:785-97.
13. Fielding CJ, Shore VG, Fielding PE. A protein cofactor of lecithin: Cholesterol acyltransferase. Biochem Biophys Res Commun 1972;46:1493-8.
14. Juo SH, Wyszynski DF, Beaty TH, Huang HY, Bailey-Wilson JE. Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: A meta-analysis. Am J Med Genet 1999;82:235-41.
15. Ordovas JM. The genetics of serum lipid responsiveness to dietary interventions. Proc Nutr Soc 1999;58:171-87.
16. Wang XL, Badenhop R, Humphrey KE, Wilcken DE. New MspI polymorphism at +83 bp of the human apolipoprotein AI gene: Association with increased circulating high density lipoprotein cholesterol levels. Genet Epidemiol 1996;13:1-10.
17. Wang XL, Liu SX, McCredie RM, Wilcken DE. Polymorphisms at the 5′-end of the apolipoprotein AI gene and severity of coronary artery disease. J Clin Invest 1996;98:372-7.
18. Carmena-Ramon RF, Ordovas JM, Ascaso JF, Real J, Priego MA, Carmena R. Influence of genetic variation at the apo A-I gene locus on lipid levels and response to diet in familial hypercholesterolemia. Atherosclerosis 1998;139:107-13.
19. Reguero JR, Cubero GI, Batalla A, et al. Apolipoprotein AI gene polymorphisms and risk of early coronary heart disease. Cardiology 1998;90:231-5.
20. Pulkkinen A, Viitanen L, Kareinen A, Lehto S, Laakso M. MspI polymorphism at +83 bp in intron 1 of the human apolipoprotein AI gene is associated with elevated levels of HDL cholesterol and apolipoprotein AI in nondiabetic subjects but not in type 2 diabetic patients with coronary heart disease. Diabetes Care 2000;23:791-5.
21. Zou Y, Hu D, Yang X, et al. Relationships among apolipoprotein AI gene polymorphisms, lipid levels and coronary atherosclerosis disease. Chin Med J (Engl) 2003;116:665-8.
22. Moll PP, Michel VV, Weidman WH, Kottke BA. Genetic determination of plasma apolipoprotein AI in a population-based sample. Am J Hum Genet 1989;44:124-39.
23. Dammerman M, Sandkuijl LA, Halaas JL, Chung W, Breslow JL. An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3′ untranslated region polymorphisms. Proc Natl Acad Sci USA 1993;90:4562-6.
24. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
25. Larson IA, Ordovas JM, Barnard JR, et al. Effect of apolipoprotein A-I genetic variations on plasma apolipoprotein, serum lipoprotein and glucose levels. Clin Genet 2002;61:176-84.
26. Waterworth DM, Ribalta J, Nicaud V, Dallongeville J, Humphries SE, Talmud P. ApoCIII gene variants modulate postprandial response to both glucose and fat tolerance tests. Circulation 1999;99:1872-7.
27. Juvonen T, Savolainen MJ, Kairaluoma MI, Lajunen LH, Humphries SE, Kesaniemi YA. Polymorphisms at the apoB, apoA-I, and cholesteryl ester transfer protein gene loci in patients with gallbladder disease. J Lipid Res 1995;36:804-12.
28. Jeenah M, Kessling A, Miller N, Humphries S. G to A substitution in the promoter region of the apolipoprotein AI gene is associated with elevated serum apolipoprotein AI and high density lipoprotein cholesterol concentrations. Mol Biol Med 1990;7:233-41.
29. Pagani F, Sidoli A, Giudici GA, Barenghi L, Vergani C, Baralle FE. Human apolipoprotein A-I gene promoter polymorphism: Association with hyperalphalipoproteinemia. J Lipid Res 1990;31:1371-7.
30. Kibe A, Holzbach RT, LaRusso NF, Mao SJ. Inhibition of cholesterol crystal formation by apolipoproteins in supersaturated model bile. Science 1984;225:514-6.
31. Jones KA, Yamamoto KR, Tjian R. Two distinct transcription factors bide to the HSV thymidine kinase promoter in vitro. Cell 1985;42:559-72.
32. Kadonaga JT, Jones KA, Tjian R. Promoter-specific activation of RNA polymerase-II transcription by SP1. Trends Biochem Sci 1986;11:20-3.
33. Angotti E, Mele E, Costanzo F, Avvedimento EV. A polymorphism (G → A transition) in -78 position of apolipoprotein A-I promoter increases transcription efficiency. J Biol Chem 1994;269:17371-4.
34. Shoulders CC, Harry PJ, Lagrost L, et al. Variation at the apo AI/CIII/ AIV gene complex is associated with elevated plasma levels of apo CIII. Atherosclerosis 1991;87:239-47.
35. Talmud PJ, Humphries SE. Apolipoprotein C-III gene variation and dyslipidaemia. Curr Opin Lipidol 1997;8:154-8.
36. Surguchov AP, Page GP, Smith L, Patsch W, Boerwinkle E. Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. Arterioscler Thromb Vasc Biol 1996;16:941-7.
37. 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.