Influence of genetic variability in the nondeletion LDL-receptor allele on phenotypic variation in French-Canadian familial hypercholesterolemia heterozygotes sharing a 'null' LDL-receptor gene defect

Atherosclerosis

Volumn 119, Issue 1, 1996, Pages 43-55

  Bétard, Christine ^a,c   Kessling, A M ^b   Roy, M ^a   Davignon, J ^a  

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c CENTRE DE RECHERCHE   (Canada)

Author keywords

Familial hypercholesterolemia; Haplotype; LDL receptor

Indexed keywords

APOLIPOPROTEIN E; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE DELETION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEX DIFFERENCE;

EID: 0342855377     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/0021-9150(95)05627-0     Document Type: Article

References (49)

1. Bétard C, Kessling AM, Roy M, Chamberland A, Lussier-Cacan S, Davignon J. Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French-Canadians. Hum Genet 1992;88:529.
2. Brown MS, Goldstein JL. Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3 methylglutaryl coenzyme A reductase activity. Proc Natl Acad Sci USA 1974;71:788.
3. Muller C. Xanthomata, hypercholesterolemia, angina pectoris. Acta Med Scand Suppl 1938;89:75.
4. Khachadurian AK. The inheritance of essential familial hypercholesterolemia. Ann J Med 1964;37:402.
5. Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds). The Metabolic Basis of Inherited Disease. 6th ed. New York: McGraw-Hill Book Co., 1989;1215.
6. Hobbs HH, Russell DW, Brown MS, Goldstein JL. The LDL-receptor locus in familial hypercholesterolemia: mutational analysis of membrane protein. Ann Rev Genet 1990;24:133.
7. Lindgren V, Luskey KL, Russell DW, Francke U. Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase with cDNA probes. Proc Natl Acad Sci USA 1985;82:8567.
8. Sudhof TC, Goldstein JL, Brown MS, Russell DW. The LDL-receptor gene: a mosaic of exons shared with different proteins. Science 1985;228:815.
9. Harlan WR Jr, Graham JB, Estes EH. Familial hypercholesterolemia: a genetic and metabolic study. Medecine (Baltimore) 1966;45:77.
10. Thompson GR, Seed M, Niththyanan S, McCarthy S Thorogood M. Genetic and phenotypic variation in familial hypercholesterolemia. Arteriosclerosis 1989;9:75.
11. Kwiterovith PO Jr, Levy RI, Fredrickson DS. Neonatal diagnosis of familial type II hyperlipidemia. Lancet 1973;1:118.
12. Khachadurian AK. A general review of clinical and laboratory features of familial hypercholesterolemia. Protides Biol Fluids 1971;19:315.
13. Roy M, Sing CF, Bétard C, Davignon J. Impact of a common mutation of the LDL receptor gene, in French Canadian patients with familial hypercholesterolemia, or means, variances and correlations among traits of lipid metabolism. Clin Genet 1995;47:59.
14. Hobbs HH, Leitersdorf E, Leffert CC, Cryer DR, Brown MS, Goldstein JL. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J Clin Invest 1989;84:656.
15. Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL. Deletion in the gene for low density lipoprotein receptor in a majority of French-Canadians with familial hypercholesterolemia. N Engl J Med 1987;317:734.
16. Ma Y, Bétard C, Roy M, Davignon J, Kessling AM. Identification of a second 'French Canadian' LDL-receptor gene deletion and development of a rapid method to detect both deletions. Clin Genet 1989;36:219.
17. Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990;85:1014.
18. Simard J, Moorjani S, Vohl MC, Couture P, Torres AL Gagné C, Despres JP, Labrie F, Lupien JP. Detection of a novel mutation (stop 468) in exon 10 of the low density lipoprotein receptor gene causing familial hypercholesterolemia in French Canadians. Hum Mol Genet 1994;3:1689.
19. Russell DW, Lehrman MA, Sudhof TC, Davis CG, Hobbs HH Brown MS, Goldstein JL. The LDL-receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein. Cold Spring Harbor Symp Quant Biol 1986;151:811.
20. Davignon J, Roy M, Dufour R, Roederer G. The hyperlipidemias. In: Steiner G and Shaffrir E (eds). McGraw-Hill, New York, Primary Hyperlipidemias. Familial Hypercholesterolemia, 1991;11:201.
21. Lipid Research Clinics Program. Manual of Laboratory Operations. Vol. 1: Lipid and lipoprotein analysis. DHEW publication No (NIH) 75-628, Washington DC: US Government Printing Office, 1974;1.
22. Lussier-Cacan S, Bouthillier D, Davignon J. Apo E allele frequency in primary endogenous hypertriglyceridemia (type IV) with and without hyperapobetalipoproteinemia. Arteriosclerosis 1985;5:639.
23. Bouthillier D, Sing CF, Davignon J. Apolipoprotein E phenotyping with a single gel method: application to the study of informative matings. J Lipid Res 1983;24:1060.
24. Hobbs HH, Leitersdorf E, Goldstein JL, Brown MS Russell DW. Multiple crm-mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest 1988;81:909.
25. Kotze MJ, Retief AE, Brink PA, Weich HFH. A DNA polymorphism in the human low density lipoprotein receptor gene. SAMJ 1986;70:77.
26. Leitersdorf E, Hobbs HH. Human LDL-receptor gene: two Apa LI RFLPs. Nucl Acids Res 1987;15:2782.
27. Humphries SE, Kessling AM, Horsthemke B, Donald JA Seed M, Jowett N, Holm M, Galton DJ, Wynn V, Williamson R. A common DNA polymorphism of the low density lipoprotein (LDL) receptor gene and its use in diagnosis. Lancet 1985;i:1003.
28. Kotze MJ, Langenhoven E, Dietzsch E, Relief AE. A RFLP associated with the low density lipoprotein receptor (LDLR). Nucl Acids Res 1987;15:376.
29. Statistical Analysis System (SAS). SAS Users guide: Basics and Statistics, 6th Edition, SAS Institute Inc. Carey North Carolina, 1989.
30. Kessling AM, Ouellette S, Bouffard O, Chamberland A Betard C, Sellinger E, Xhignesse M, Lussier-Cacan S, Davignon J. Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, 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 1992;50:92.
31. Moorjani S, Roy M, Gagne C, Davignon J, Brun D. Homozygous familial hypercholesterolemia among French Canadians in Quebec province. Arteriosclerosis 1989;9:211.
32. Moorjani S, Roy M, Torres A, Betard C, Gagne C Lambert M, Brun D, Davignon J, Lupien P. Mutations of low density lipoprotein receptor gene variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia. The Lancet 1993;341:1303.
33. Humphries SE, Taylor R, Jeenah M, Dunning A, Horsthemke B, Seed M, Schuster H, Wolfram G. Gene probes in diagnosis of familial hypercholesterolemia. Arteriosclerosis Suppl. I 1989;9:I59.
34. Pedersen JC, Berg K. Normal DNA polymorphisms at the low density receptor (LDLR) associated with serum cholesterol level. Clin Genet 1988;34:306.
35. Schuster H, Humphries S, Rauch G, Held C, Keller CH Wolfram G, Zoller N. Association of DNA-haplotypes in the human LDL-receptor gene with normal serum cholesterol levels. Clin Genet 1990;38:401.
36. Humphries SE, Coviello DA, Masturzo P, Balestreri R Orecchini G, Bertolini S. Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy. Arteriosclerosis 1991;11:509.
37. Ahn YI, Kambosh MI, Aston CE, Ferrell RE, Hamman RF. Role of common genetic polymorphism in the LDL-receptor gene in affecting plasma cholesterol levels in the general population. Arteriosclerosis 1994;14:663.
38. Goldstein JL, Brown MS. Progress in understanding the LDL-receptor and HMG-CoA reductase, two membrane proteins that regulate the plasma cholesterol. J Lipid Res 1984;25:1450.
39. Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988;8:1.
40. Pitas RE, Innerarity TL, Arnold KS, Mahley RW. Rate and equilibrium constants for binding of apo E HDLc (a cholesterol induced lipoprotein) and low density lipoproteins to human fibroblasts: evidence for multiple receptor binding of apo E-HDLc. Proc Natl Acad Sci USA 1979;76:2311.
41. Davignon J, Dallongeville J, Fortin LJ, Chamberland A Bétard C, Minnich A, Lussier-Cacan S. Apolipoprotein E and atherosclerosis: Quest for an apo E receptor defect leads to the discovery of pseudo type III dyslipoproteinemia in a family. Atherosclerosis IX, Excerpta Medica, Elsevier Publishers. In: Stein O, Eisenberg S, Stein Y (eds). Atherosclerosis IX, R&L Creative Communications Ltd, Tel Aviv Israel, 1992;199.
42. Havel RJ. Role of the liver in atherosclerosis. Arteriosclerosis 1985;5:569.
43. Kessling AM, Rajput-Williams J, Bainton D, Scott J Miller N, Baker I, Humphries SE. DNA polymorphisms of the apolipoprotein AI-CIII-AIV genes: a study in men selected differences in high density lipoprotein cholesterol concentrations. Am J Hum Genet 1988;42:458.
44. Templeton AR, Sing CF, Kessling AM, Humphries SE. A cladistic analysis of phenotype associations with haplotypes inferred from restriction endonuclease mapping. II. The analysis of natural populations. Genetics 1988;120:1145.
45. Kwiterovith PO Jr, Fredrickson DS, Levy RI. Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood. J Clin Invest 1974;53:1237.
46. Streja D, Steiner G, Kwiterovich PO Jr. Plasma high density lipoproteins and ischemic heart disease: studies in a large kindred with familial hypercholesterolemia. Ann Intern Med 1978;89:871.
47. Seftel HC, Baker SG, Sandler MP, Forman MB, Joffe BI Mendelsohn D, Jenkins T, Meiny CJ. A host of hypercholesterolemic homozygotes in South Africa. Br Med J 1980;281:633.
48. Slack J, Nevin NC. The increase of death from ischaemic heart disease in first degree relatives of 121 men and 96 women with ischaemic heart disease. J Med Genet 1968;5:4.
49. Stone NJ, Levy RI, Fredrickson DS, Verter J. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 1974;49:476.