Lack of association of the apolipoprotein A-I-C-III-A-IV gene Xmnl and Sstl polymorphisms and of the lipoprotein lipase gene mutations in familial combined hyperlipoproteinemia in French Canadian subjects

Journal of Lipid Research

Volumn 37, Issue 2, 1996, Pages 309-319

  Marcil, M ^a,c   Boucher, B ^a   Gagne E ^d   Davignon, J ^a   Hayden, M ^d   Genest Jr , J ^a,b,c  

^a MONTREAL HEART INSTITUTE   (Canada)

^b CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^c CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Apolipoprotein A I genetics; Apolipoprotein B; Familial combined hyperlipoproteinemia; Lipoprotein lipase

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN A4; APOLIPOPROTEIN C3; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; AGED; ARTICLE; CANADA; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; HYPERLIPOPROTEINEMIA; HYPERTENSION; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RACE;

ADULT; AGED; APOLIPOPROTEIN A-I; APOLIPOPROTEIN C-III; APOLIPOPROTEINS A; APOLIPOPROTEINS C; BASE SEQUENCE; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; FRANCE; HUMANS; HYPERLIPIDEMIA, FAMILIAL COMBINED; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; QUEBEC;

EID: 0029922275     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (56)

1. Goldstein, J. L., H. G. Schrott, W. R. Hazzard, E. L. Bierman, and A. G. Motulsky. 1973. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J. Clin. Invest. 52: 1544-1568.
2. Rose, H. G., P. Kranz, M. Weinstock, J. Juliano, and J. I. Haft. 1973. Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. Am. J. Med. 54: 148-160.
3. Nikkilä, E. A., and A. Aro. 1973. Family study of lipids and lipoproteins in coronary heart disease. Lancet. 1: 954-959.
4. Glueck, C. J., R. Fallat, C. R. Buncher, R. Tsang, and P. Steiner. 1973. Familial combined hyperlipoproteinemia: studies in 91 adults and 95 children from 33 kindreds. Metabolism. 23: 1403-1428.
5. Brunzell, J. D., J. J. Albers, A. Chait, S. M. Grundy, E. Groszek, and G. B. McDonald. 1983. Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. J. Lipid Res. 24: 147-155.
6. Vega, G. L., W. F. Beltz, and S. M. Grundy. 1985. Low density lipoprotein metabolism in hypertriglyceridemic and normolipidemic patients with coronary heart disease. J. Lipid Res. 26: 115-126.
7. Teng, B., A. D. Sniderman, A. K. Soutar, and G. R. Thompson. 1986. Metabolic basis of hyperapobetalipoproteinemia. Turnover of apolipoprotein B in low density lipoprotein and its precursors and subfractions compared with normal and familial hypercholesterolemia. J. Clin. Invest. 77: 663-672.
8. Grundy, S. M., A. Chait, and j. D. Brunzell. 1987. Familial combined hyperlipidemia workshop. Meeting summary. Arteriosclerosis. 7: 203-207.
9. Ericsson, S., M. Eriksson, L. Berglund, and B. Angelin. 1988. Low density lipoprotein metabolism in hereditary forms of hypertriglyceridemia: studies in familial hypertriglyceridemia and familial combined hyperlipidemia. 8th International Symposium on Atherosclerosis. 231.
10. Sane, T., and E. A. Nikkilä. 1988. Very low density lipoprotein triglyceride metabolism in relatives of hypertriglyceridemic probands. Evidence for genetic control of triglyceride removal. Arteriosclerosis. 8: 217-226.
11. Genest, J. Jr., J-M. Bard, J-C. Fruchart, J. M. Ordovas, and E. J. Schaefer. 1993. Familial hypoalphalipoproteinemia in premature coronary artery disease. Arterioscler. Thromb. 13: 1728-1737.
12. Sniderman, A., S. Shapiro, D. Marpole, B. Skinner, B. Teng, and P. O. Kwiterovich, Jr. 1980. Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins]. Proc. Natl. Acad. Sci. USA. 77: 604-608.
13. Genest, J. J., Jr., S. S. Martin-Munley, J. R. McNamara, J. M. Ordovas, J. M. Jenner, R. H. Meyers, S. R. Silberman, P. W. F. Wilson, D. N. Salem, and E. J. Schaefer. 1992. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation. 85: 2025-2033.
14. Wojciechowski, A. P., M. Farrall, P. Cullen, T. M. Wilson, J. D. Bayliss, B. Farren, B. A. Griffin, M. J. Caslake, C. J. Packard, and J. Shepherd. 1991. Familial combined hyperlipidaemia linked to the apolipoprotein A-I-C-III-A-IV gene cluster on chromosome 11q23-q24. Nature. 349: 161-164.
15. Hayden, M. R., H. Kirk, C. Clark, J. Frolich, S. Rabkin, R. McLeod, and J. Hewitt. 1987. DNA polymorphisms in and around the apoA-I-CIII genes and genetic hyperlipidemias. Am. J. Hum. Genet. 40: 421-430.
16. Ordovas, J. M., F. Civeira, J. Genest, Jr., S. Craig, A. H. Robbins, T. Meade, M. Pocovi, P. M. Frossard, U. Masharani, P. W. F. Wilson, D. N. Salem, R. H. Ward, and E. J. Schaefer. 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.
17. Genest, J., Jr., J. M. Ordovas, J. R. McNamara, A. M. Robbins, T. Meade, S. D. Cohn, D. N. Salem, P. W. F. Wilson, U. Masharani, P. M. Frossard, and E. J. Schaefer. 1990. DNA polymorphisms of the apolipoprotein B gene in patients with premature coronary artery disease. Atherosclerosis. 82: 7-17.
18. Gagné, C., L. D. Brun, P. Julien, S. Moorjani, and P-J. Lupien. 1989. Primary lipoprotein-lipase activity deficiency: clinical investigation of a French Canadian population. Can. Med. Assoc. J. 140: 405-411.
19. Ma, Y., H. E. Henderson, M. R. V. Murthy, G. Roederer, M. V. Monsalve, L. A. Clarke, T. Normand, P. Julien, C. Gagné, M. Lambert, J. Davignon, P. J. Lupien, J. D. Brunzell, and M. R. Hayden. 1991. A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. N. Engl. J. Med. 324: 1761-1766.
20. Monsalve, M. V., H. Henderson, G. Roederer, P. Julien, S. Deeb, J. J. P. Kastelein, L. Perity, R. Devlin, T. Bruin, M. R. V. Murthy, C. Gagné, J. Davignon, P. J. Lupien, J. D. Brunzell, and M. R. Hayden. 1990. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J. Clin. Invest. 86: 728-734.
21. Henderson, H. E., Y. Ma, F. Hassan, M. V. Monsalve, A. D. Marais, F. Winkler, K. Gubernator, J. Peterson, J. D. Brunzell, and M. R. Hayden. 1991. Amino acid substitution (Ile194 → Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. J. Clin. Invest. 87: 2005-2011.
22. Babirak, S. P., P-H. Iverius, W. Y. Fujimoto, and J. D. Brunzell. 1989. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis. 9: 326-334.
23. Emi, M., D. E. Wilson, P-H. Iverius, L. Wu, A. Hata, R. Hegele, R. R. Williams, and J-M. Lalouel. 1990. Missense mutation (Gly → Glu188) of human lipoprotein lipase imparting functional deficiency. J. Biol. Chem. 265: 5910-5916.
24. Wilson, D. E., M. Emi, P-H. Iverius, A. Hata, L. L. Wu, E. Hillas, R. R. Williams, and J. M. Lalouel. 1990. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J. Clin. Invest. 86: 735-750.
25. McNicoll, S., Y. Latour, C. Rondeau, D. Bouthillier, J. Davignon, and J. Genest, Jr. 1995. Cardiovascular risk factors and lipoprotein profile in French Canadians with premature CAD: impact of the National Cholesterol Education Program II. Can. J. Cardiol. 11: 109-116.
26. Hobbs, H. H., M. S. Brown, and J. L. Goldstein. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1: 445-466.
27. Expert Panel. 1993. Summary of the Second Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel II). J. Am. Med. Assoc. 269: 3015-3023.
28. Xhignesse, M., S. Lussier-Cacan, C. F. Sing, A. M. Kessling, and J. Davignon. 1991. Influences of common variants of apolipoprotein E on measures of lipid metabolism in a sample selected for health. Arterioscler. Thromb. 11: 1100-1110.
29. Kessling, A., S. Ouelette, O. Bouffard, A. Chamberland, C. Betard, E. Selinger, M. Xhignesse, S. Lussier-Cacan, and J. Davignon. 1992. Patterns of association between genetic variability in apolipoprotein (apo) B, apoA-I-C-III-A-IV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones. Am. J. Hum. Genet. 50: 92-106.
30. Fievet-Desreumaux, C., E. Dedender-Decoopman, J-C. Fruchart, P. Dewailly, and G. Sezille. 1979. Immonochemical determination of human apolipoprotein B by laser nephelometry. Clin. Chim. Acta. 95: 405-408.
31. Saiki, R. K., D. H. Gelfand, S. Stoffel, S. J. Scharf, R. Higuchi, G. T. Horn, K. B. Mullis, and H. A. Erlich. 1988. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 239: 487-491.
32. Minnich, A., A. Kessling, M. Roy, C. Giry, G. DeLangavant, J. Lavigne, S. Lussier-Cacan, and J. Davignon. 1995. Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent. J. Lipid Res. 36: 117-124.
33. The Lipid Research Clinics. 1980. Population Sudies Data Book. Vol I: The Prevalence Study. Washington, DC, US Department of Health and Human Services. NIH Publication No. 80-1527.
34. Gagné, E., J. Genest, Jr., H. Zhang, L. A. Clarke, and M. R. Hayden. 1994. Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler. Thromb. 14: 1250-1257.
35. Beisiegel, U., W. Weber, and G. Bengtsson-Olivecrona. 1991. Lipoprotein lipase enhances the binding of chylomicrons to low density lipoprotein receptor-related protein. Proc. Natl. Acad. Sci. USA. 88: 8342-8346.
36. Hussain, M. M., F. R. Maxfield, J. Mas-Oliva, I. Tabas, Z-S. Ji, T. L. Innerarity, and R. W. Mahley. 1991. Clearance of chylomicron remnants by the low density lipoprotein receptor-related protein/alpha-2-macroglobulin receptor. J. Biol. Chem. 266: 13936-13940.
37. Young, S. G. 1990. Recent progress in understanding apolipoprotein B. Circulation. 82: 1574-1594.
38. Dashti, N., E. A. Smith, and P. Alaupovic. 1990. Increased production of apolipoprotein B and its lipoproteins by oleic acid in Caco-2 cells. J. Lipid Res. 31: 113-123.
39. Zannis, V. I., D. Kardassis, P. Cardot, M. Hadzopoulou-Cladaras, E. E. Zanni, and C. Cladaras. 1992. Molecular biology of the human apolipoprotein genes: gene regulation and structure/function relationship. Curr. Opin. Lipidol. 3: 96-113.
40. Sorci-Thomas, M., M. D. Wilson, F. L. Johnson, D. L. Williams, and L. L. Rudel. 1989. Studies on the expression of genes encoding apolipoproteins B100 and B48 and the low density lipoprotein receptor in nonhuman primates. J. Biol. Chem. 264: 9039-9045.
41. Davis, R. A., J. R. Boogaerts, R. A. Borchardt, M. Malone-McNeal, and J. Archambault-Schexnayder. 1985. Intrahepatic assembly of very low density lipoproteins. Varied synthetic response of individual apolipoprotein to fasting. J. Biol. Chem. 260: 14137-14144.
42. Bamberger, M. J., and M. D. Lane. 1988. Assembly of very low density lipoprotein in the hepatocyte. Differential transport of apoproteins through the secretory pathway. J. Biol. Chem. 263: 11868-11878.
43. Borén, J., M. Wettesten, A. Sjöberg, T. Thorlin, G. Bondjers, O. Wiklund, and S. O. Olofsson. 1990. The assembly and secretion of apoB-100-containing lipoproteins in HepG2 cells. Evidence for different sites for protein synthesis and lipoprotein assembly. J. Biol. Chem. 265: 10556-10564.
44. Cianflone, K. M., Z. Yasruel, M. A. Rodriguez, D. Vas, and A. D. Sniderman. 1990. Regulation of apoB secretion from HepG2 cells: evidence for a critical role for cholesteryl ester synthesis in the response to a fatty acid challenge. J. Lipid Res. 31: 2045-2055.
45. Chait, A., J. J. Albers, and J. D. Brunzell. 1980. Very low density lipoprotein overproduction in genetic forms of hypertriglyceridaemia. Eur. J. Clin. Invest. 10: 17-22.
46. Cortner, J. A., P. M. Coates, M. J. Bennett, D. R. Cryer, and N. A. Le. 1991. Familial combined hyperlipidaemia: use of stable isotopes to demonstrate overproduction of very low density lipoprotein apolipoprotein B by the liver. J. Inherited Metab. Dis. 14: 915-922.
47. Kissebach, A. H., S. Alfarsi, and P. W. Adams. 1981. Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein-B kinetics in man: normolipemic subjects, familial hypertriglyceridemia and familial combined hyperlipidemia. Metabolism. 30: 856-868.
48. Venkatesan, S., P. Cullen, P. Pacy, D. Halliday, and J. Scott. 1993. Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia. Arterioscler. Thromb. 13: 1110-1118.
49. Reaven, G. M. 1988. Banting Lecture 1988. The role of insulin resistance in human disease. Diabetes. 37: 1595-1607.
50. Williams, R. R., S. C. Hunt, P. N. Hopkins, B. M. Stults, L. L. Wu, S. J. Hasstedt, G. K. Barlow, S. H. Stephenson, J-M. Lalouel, and H. Kuida. 1988. Familial dyslipidemic hypertension. Evidence from 58 Utah families for a syndrome present in approximately 12% of patients with essential hypertension. J. Am. Med. Assoc. 259: 3579-3586.
51. Assmann, G., and H. Schulte. 1992. Relation of high density lipoprotein cholesterol and triglycerides to incidence of atherosclerotic coronary artery disease (the PROCAM experience). Prospective Cardiovascular Münster study. Am. J. Cardiol. 70: 733-737.
52. Genest, J., Jr., and J. Cohn. 1995. Clustering of cardiovascular risk factors. Targeting high risk individuals. Am. J. Cardiol. 75: 8A-20A.
53. Sniderman, A., B. G. Brown, B. F. Stewart, and K. Cianflone. 1992. From familial combined hyperlipidemia to hyperapoB: unraveling the overproduction of hepatic apolipoprotein B. Curr. Opin. Lipidol. 3: 137-142.
54. Innerarity, T. L., R. W. Mahley, K. H. Weisgraber, T. P. Bersot, R. M. Krauss, G. L. Vega, S. M. Grundy, W. Friedl, J. Davignon, and B. J. McCarthy. 1990. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J. Lipid Res. 31: 1337-1349.
55. Cullen, P., B. Farren, J. Scott, and M. Farrall. 1994. Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia. Arterioscler. Thromb. 14: 1233-1249.
56. Nishina, P. M., J. P. Johnson, J. K. Naggert, and R. M. Krauss. 1992. Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19. Proc. Natl. Acad. Sci. USA. 89: 708-712.