Hypertriglyceridemia and the apolipoprotein CIII gene locus: Lack of association with the variant insulin response element in Italian school children

Human Genetics

Volumn 98, Issue 5, 1996, Pages 557-566

  Shoulders, Carol C ^a   Grantham, Tamsin T ^a   North, Julia D ^a   Gaspardone, Achille ^b   Tomai, Fabrizo ^b   De Fazio, Anna ^b   Versaci, Francesco ^b   Gioffre, Pier A ^b   Cox, Nancy J ^c  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN C3; NUCLEOTIDE; TRIACYLGLYCEROL;

ADOLESCENT; ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DNA POLYMORPHISM; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HYPERTRIGLYCERIDEMIA; INSULIN RESPONSE; ITALY; MAJOR CLINICAL STUDY; NORMAL HUMAN; POPULATION GENETICS; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD;

ADOLESCENT; ALLELES; APOLIPOPROTEIN A-I; APOLIPOPROTEIN C-III; APOLIPOPROTEINS A; APOLIPOPROTEINS C; CHILD; FEMALE; GENOTYPE; HAPLOIDY; HUMANS; HYPERTRIGLYCERIDEMIA; INSULIN; ITALY; MALE; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS);

EID: 0029809956     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050259     Document Type: Article

References (67)

1. Aalto-Setälä K, Kontula K, Sane T, Nieminen M, Nikkila E (1987) DNA polymorphisms of apolipoprotein AI/CIII and insulin genes in familial hypertriglyceridemia and coronary heart disease. Atherosclerosis 66:145-152
2. Aalto-Setälä K, Fisher EA, Chen X, Chajek-Shaul T, Hayek T, Zechner R, Walsh A, Ramakrishnan, Ginsberg HN, Breslow JL (1992) Mechanism of hypertriglyceridemia in human apolipoprotein (apo) CIII transgenic mice: diminished very low density fractional catabolic rate associated with increased apoCIII and reduced apo E on the particles. J Clin Invest 90:1889-1900
3. Allain CC, Poon LS, Chan CSG, Richmond W, Fu PC (1974) Enzymatic determination of total serum cholesterol. Clin Chem 20:470-475
4. Anderson RA, Burns TL, Lee J, Swenson D, Bristow JL (1989) Restriction fragment length polymorphisms associated with abnormal lipid levels in an adolescent population. Atherosclerosis 77:227-237
5. Austin MA (1991) Plasma triglyceride and coronary heart disease. Arterioscler Thromb 11:2-14
6. Berg K (1983) Genetics of coronary heart disease. In:(eds) Progress in medical genetics, vol V. WA Saunders, pp 35-52
7. Bucolo G, David H (1973) Quantitative determination of serum triglycerides by the use of enzymes. Clin Chem 19:476-482
8. Cabezas MC, Bruin TW de, Valk HW de, Shoulders CC, Jansen H, Erkelens WD (1993) Impaired fatty acid metabolism in familial combined hyperlipidemia. A mechanism associating apolipoprotein B overproduction and insulin resistance. J Clin Invest 92:160-168
9. Chamberlain JC, Thorn JA, Oka K, Galton DJ, Stocks J (1989) DNA polymorphisms at the lipoprotein lipase gene: associations in normal and hypertriglyceridemic subjects. Atherosclerosis 79:85-91
10. Chen M, Breslow JL, Li W, Leff T (1994) Transcriptional regulation of the apoC-III gene by insulin in diabetic mice: correlation with changes in plasma triglyceride levels. J Lipid Res 35:1918-1924
11. Crea F, Gaspardonne A, Tomai F, Shoulders C, Fazio A De, Versaci F, Iamele M, Roncaglioni C, Gioffre M, Maseri A, Gioffré PA (1994) Risk factors in school children associated with a family history of unheralded myocardial infarction or uncomplicated stable angina in male relatives. J Am Coll Cardiol 23:1472-1478
12. Criqui MH, Heiss G, Cohn R, Cowan LD, Suchindran CM, Bangdiwalas S, Kritchevsky S, Jacobs DR Jr, O'Grady HK, Davis CE (1993) Plasma triglyceride level and mortality from coronary heart disease. New Engl J Med 328:1220-1225
13. Dallinga-Thie GM, Bu X-D, Linde-Sibenius Trip M van, Rotter JL, Lusis AJ, Bruin TWA de (1996) Apolipoprotein A-I/C-III/A-IV gene cluster in familial combined hyperlipidemia: effects on LDL-cholesterol and apolipoproteins B and C-III. J Lipid Res 37:136-145
14. Dammerman M, Sandkuijl LA, Halaas JL, Chung W, Breslow JL (1993) An apolipoprotein C-III haplotype protective against hypertriglyceridemia is specified by promoter and 3′ untranslated region polymorphisms. Proc Natl Acad Sci USA 90:4562-4566
15. Deeb S, Failor A, Brown BG, Brunzell JD, Albers JJ, Motulsky AG (1986) Molecular genetics of apolipoproteins and coronary heart disease. Quant Biol I:403-409
16. Dunn FL (1990) Hyperlipidemia in diabetes mellitus. Diabetes Metab Rev 6:47-61
17. Goldstein JL, Brown MS (1984) In: Stanbury JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 672-712
18. Grove TH (1979) Effect of reagent pH on determination of high-density lipoprotein cholesterol by precipitation with sodium phosphotungstenate-magnesium. Clin Chem 25:560-564
19. Gwynne J (1992) Clinical features and pathophysiology of familial dyslipidemia hypertension syndrome. Curr Opin Lipidol 3:215-221
20. Haase A, Stoffel W (1990) The 3′ flanking region shared by the human apolipoprotein Ai and CIII gene regulates gene expression in cooperation with 5′ flanking elements. Biol Chem Hoppe Seyler 371:375-382
21. Haffner SM, Valdez RA, Hazuda HP, Mitchell B, Morales PA, Stern MP (1992) Prospective analysis of the insulin-resistance syndrome (Syndrome X). Diabetes 41:715-722
22. Hayden MR, Kirk H, Clark C, Frohlich J, Rabkin S, Mcleod R, Hewitt J (1987) DNA polymorphisms in and around the Apo-AI-CIII genes and genetic hyperlipidemias. Am J Hum Genet 40:421-430
23. Hegele RA, Brunt H, Connelly PW (1995) Multiple genetic determinants of variation of plasma lipoproteins in Alberta Hutterites. Arteriosclerosis 15:861-871
24. Henderson HE, Landon SV, Michie J, Berger MB (1987) Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidemic phenotypes. Hum Genet 75:62-65
25. Hill WG, Robertson (1968) A linkage disequilibrium in finite populations. Theor Appl Genet 38:226-231
26. Ito Y, Azrolan N, O'Connell A, Walsh A, Breslow JL (1990) Hypertriglyceridemia as a result of human apoCIII gene expression in transgenic mice. Science 249:790-793
27. Julier C, Lucassen A, Villedieu P, Levy Marchal C, Danze PM, Bianchi F, Boitard C, Froguel P, Bell J, Lathrop GM (1994) Multiple DNA variant association analysis: application to the insulin gene region in type I diabetes. Am J Hum Genet 55:1247-1254
28. Karathanasis SK, McPherson J, Zannis VI, Breslow JL (1983) Linkage of human apo-AI and apo-CIII genes. Nature 304:371-373
29. Karathanasis SK, Zannis VI, Breslow JL (1985) Isolation and characterization of cDNA clones corresponding to two different human apoC-III alleles. J Lipid Res 26:451-456
30. Karathanasis SK, Oettgen P, Haddad IA, Antonarakis SE (1986) Structure and evolution and polymorphisms of the human apolipoprotein A4 gene. Proc Natl Acad Sci USA 84:7198-7202
31. Kashyap ML, Srivastava LS, Hynd BA, Gartside PS, Perisutti G (1981) Quantitation of human apolipoprotein C-III and its subspecies by radioimmunoassay and analytical isoelectric focusing: abnormal plasma triglyceride-rich lipoprotein apolipoprotein C-III subspecies concentration in hypertriglyceridemia. J Lipid Res 22:800-810
32. Kessling AM, Horsthemke B, Humphries SE (1985) A study of DNA polymorphisms around the apoAI gene in hyperlipidemic and normal individuals. Clin Genet 28:296-306
33. Larsen ML, Illingworth DG (1993) Triglyceride-lowering agents: fibrates and nicotinic acid. Curr Opin Lipidol 4:34-40
34. Law A, Wallis SC, Powell LM, Pease RJ, Brunt H, Priestley LM, Knott TJ, Scott J, Altman DG, Miller GJ, Rajput J, Miller NE (1986) Common DNA polymorphism within coding sequences of apolipoprotein B gene associated with altered lipid levels. Lancet 1:1301-1303
35. Lewontin RC (1964) The interaction of selection and linkage. I. General considerations. Genetics 49:49-67
36. Li WW, Todd L (1994) Regulation of apoCIII gene transcription by insulin: characterization of an insulin response element in the CIII promoter. Circulation 90:1-401
37. Li WW, Dammerman M, Smith JD, Metzger S, Halaas JL, Breslow JL, Leff T (1994) A common variant of the apo CIII promoter associated with hypertriglyceridemia is defective in its transcriptional response to insulin. Circulation 90:1-401
38. Lucassen AM, Julier C, Beressi JP, Boitard C, Froguel P, Lathrop M, Bell JI (1993) Susceptibility to insulin dependent diabetes mellitus maps to a 41kb segment of DNA spanning the insulin gene and associated VNTR. Nat Genet 4:305-310
39. Maclean CJ, Morton NE (1985) Estimation of myriad haplotype frequencies. Genet Epidemiol 2:263-272
40. Maeda N, Li H, Lee D, Oliver P, Quarfordt SH, Osada J (1994) Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridemia and protection from postprandial hypertriglyceridemia. J Biol Chem 269:23610-23616
41. McConathy WJ, Gesquiere JC, Bass H, Tartar A, Fruchart JC, Wang CS (1992) Inhibition of lipoprotein lipase activity by synthetic peptides of apolipoprotein C-III. J Lipid Res 33:995-1003
42. Mendis S, Shepherd J, Packard CJ, Gaffney D (1990) Genetic variation in the cholesteryl ester transfer protein and apolipoprotein A-I genes and its relation to coronary heart disease in a Sri Lankan population. Atherosclerosis 83:21-27
43. Monsalve MV, Young R, Wiseman SA, Dhamu S, Powell JT, Halgh RM, Humphries SE (1989) Study of DNA polymorphisms of the apolipoprotein AI-CIII-AIV gene cluster in patients with peripheral arterial disease. Clin Sci 76:221-230
44. Ogami K, Hadzopoulou-Cladaras M, Cladaras C, Zannis V (1990) Promoter elements and factors required for hepatic and intestinal transcription of the human apo CIII gene. J Biol Chem 265:9308-9815
45. Ordovas JM, Civeira F, Genest J Jr, Craig S, Robbins AH, Meade T, Pocovi M, Frossard PM, Masharani U, Wilson PW, Salem DN, Ward RH, Schaefer EJ (1991) Restriction fragment length polymorphisms of the apolipoprotein A-I, C-III, A-IV gene locus: relationships with lipids, apolipoproteins, and premature coronary artery disease. Atherosclerosis 87:75-86
46. Paul H, Galton D, Stocks J (1987) DNA polymorphic patterns and haplotype arrangements of the apoA-I, apo-CIII, apo A-IV gene cluster in different ethnic groups. Hum Genet 75:264-268
47. Price WH, Morris SW, Kitchen AH, Wenham PR, Burgon PRS, Donald PM (1989) DNA restriction fragment length polymorphisms as markers of familial coronary heart disease. Lancet i:1407
48. Protter AA, Levy-Wilson B, Miller J, Bencen G, White T, Seilhamer JJ (1984) Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the apoAI and apoCIII genes. DNA 3:449-456
49. Rees A, Shoulders CC, Stocks J, Galton DJ, Baralle FE (1983) DNA polymorphism adjacent to the human apolipoprotein AI gene: relationship to hypertriglyceridemia. Lancet i:444-446
50. Rees A, Stocks J, Sharpe CR, Veil MA, Shoulders CC, Baralle FE, Galton DJ (1986) DNA polymorphism in the apoAI-CIII gene cluster. Association with hypertriglyceridemia. J Clin Invest 76:1090-1095
51. Rosseneu M, Vercaemst R, Vinaimont N, Tornout P van, Henderson LO, Herbert PN (1981a) Quantitative determination of human plasma apoproyein A-l by laser immunonephelometry. Clin Chem 27:856-859
52. Rosseneu M, Vinaimont N, Vercaemst R, Dekeergieter W, Belpaire F (1981b) Standardization of immunoassays for the quantitation of plasma apoB protein. Anal Biochem 116:204-210
53. Saiki RK, Gefland DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491
54. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467
55. Sanlamarina-Fojo S (1992) Genetic dyslipoproteinemia: role of lipoprotein lipase and apolipoprotein C-II. Curr Opin Lipidol 3:186-195
56. Sharpe CR (1985) Genes for human apolipoproteins. PhD thesis, University of Oxford, Oxford, England
57. Shoulders CC, Ball MJ, Baralle FE (1989) Variation in the apoAI/CIII/AIV gene complex: its association with hyperlipidemia. Atherosclerosis 80:111-118
58. Shoulders CC, Harry PJ, Lagrost L, White SE, Shah NF, North JD, Gilligan M, Gambert P, Ball MJ (1991) Variation at the apo AI/CIII/AIV gene complex is associated with elevated plasma levels of apo CIII. Atherosclerosis 87:239-247
59. Shoulders CC, Narcisi TME, Jarmuz A, Brett DJ, Bayliss JD, Scott J (1993) Characterization of genetic markers in the 5′ flanking region of the apoA1 gene. Hum Genet 91:197-198
60. Sinan T (1989) Strong association of a single nucleotide substitution in the 3′-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs. Clin Chem 35:256-259
61. Sing CF, Davignon J (1985) Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet 37:268-85
62. Staels B, Vu-Dac N, Kosykh VA, Saladin R, Fruchart JC, Dallongeville J (1995) Fibrates downregulate apoC-III expression independent of induction of peroxisomal acyl coenzyme A oxidase: a potential mechanism for the hypolipidemic action of fibrates. J Clin Invest 95:705-712
63. Tybjaerg-Hansen A, Nordestgaard BG, Gerdes LU, Faergeman O, Humphries SE (1993) Genetic markers in the apoAI-CIII-AIV gene cluster for combined hyperlipidemia, hypertriglyceridemia and predisposition to atherosclerosis. Atherosclerosis 100:157-169
64. Wang CS, McConathy WJ, Kloer HU, Alaupovic P (1985) Modulation of lipoprotein lipase activity by apolipoproteins. Effect of apolipoprotein C-III. J Clin Invest 75:384-390
65. Windler E, Havel RJ (1985) Inhibitory effects of C apolipoproteins from rats and humans on the uptake of triglyceride-rich lipoproteins and their remnants by the perfused rat liver. J Lipid Res 26:556-565
66. Wojciechowski AP, Farrall M, Cullen P, Wilson TME, Bayliss JD, Farren B, Griffin BA, Caslake MJ, Packard CJ, Shepherd J, Thakker R, Scott J (1991) Familial combined hyperlipidemia linked to the apolipoprotein AI-CIII-AIV gene cluster on chromosome 11q23-24. Nature 349:161-164
67. Xu CF, Talmud P, Schuster H, Houlston R, Miller G, Humphries SE (1994) Association between genetic variation at the apo AI-CIII-AIV gene cluster and familial combined hyperlipidemia. Clin Genet 46:385-397