Molecular and genetic approaches to the study of cardiovascular disease

Journal of Cardiovascular Risk

Volumn 4, Issue 5, 1997, Pages 325-331

  Michael Hallman, D ^a   Ellsworth, Darrell L ^a   Boerwinkle, Eric ^a  

^a UNIVERSITY OF TEXAS   (United States)

Author keywords

Apolipoprotein E; Atherosclerosis; Cardiovascular disease; Dietary studies; Drugs; Genetics; Lipids; Treatment response

Indexed keywords

ANTILIPEMIC AGENT; APOLIPOPROTEIN B; APOLIPOPROTEIN E; APOLIPOPROTEIN E2; APOLIPOPROTEIN E3; APOLIPOPROTEIN E4; CHOLESTEROL; DNA; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MEVINOLIN; PROBUCOL; SIMVASTATIN; TRIACYLGLYCEROL;

ATHEROSCLEROSIS; CARDIOVASCULAR DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; PRIORITY JOURNAL; REVIEW; RISK FACTOR;

CARDIOVASCULAR DISEASES; GENE THERAPY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MOLECULAR BIOLOGY; MUTATION; POLYMORPHISM, GENETIC;

EID: 0031431250     PISSN: 13506277     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043798-199710000-00002     Document Type: Article

References (69)

1. Ross R: The pathogenesis of atherosclerosis: a perspective for the 1990s. Nature 1993, 362:801-809.
2. Sing CF, Moll PP: Genetics of atherosclerosis. Annu Rev Genet 1990, 24:171-188.
3. Goldstein JL, Hobbs HH, Brown MS: Familial hypercholesterolemia. In The Metabolic and Molecular Bases of Inherited Disease. 7th Edition. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill, Inc.; 1995,11:1981-2030.
4. Boerwinkle E, Hixson JE: Genes and normal lipid variation. Curr Opin Lipidol 1990, 1:151-159.
5. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al.: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996, 380:152-154.
6. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, et al.: A genome-wide search for human type I diabetes susceptibility genes. Nature 1994, 371:130-136. This study found at least moderately strong evidence for linkage of insulindependent diabetes mellitus to 10 chromosomal regions, some of which had not previously been suspected.
7. Hanis CL, Boerwinkle E, Chakraborty R, Ellsworth DL, Concannon P, Stirling B, et al.: A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nature Genet 1996, 13:161-166. This study found evidence for a locus on chromosome 2 that could account for 30% of familial clustering of type 2 diabetes in Mexican-Americans. There was some evidence of linkage with markers on 12 chromosomes.
8. Collins FS: Positional cloning moves from perditional to traditional. Nature Genet 1995, 9:347-350.
9. Liew CC, Hwang DM, Fung YW, Laurenssen C, Cukerman E, Tsui S, et al. A catalogue of genes in the cardiovascular system as identified by expressed sequence tags. Proc Natl Acad Sci USA 1994, 91:10645-10649.
10. Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, et al.: Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Nature 1995, 377 (suppl):3-174.
11. Bennett ST, Lucassen AM, Gough SCL, Powell EE, Undlien DE, Pritchard LE, et al.: Susceptibility to human type I diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genet 1995, 9:284-292.
12. Kennedy GC, German MS, Rutter WJ: The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genet 1995, 9:293-298.
13. Bonney GE, Lathrop GM, Lalouel J-M: Combined linkage and segregation analysis using regressive models. Am J Hum Genet 1988, 43:29-37.
14. Weeks DE, Lange K: The affected-pedigree-member method of linkage analysis. Am J Hum Genet 1988, 42:315-326.
15. Amos Cl: Robust variance components approach for assessing genetic linkage in pedigrees. Am J Hum Genet 1994, 54:535-543.
16. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996, 58:1347-1363. An approach to non-model-dependent linkage analysis that might be useful in analyzing small-to moderate-sized pedigrees.
17. Greenberg DA: Linkage analysis of ʼnecessary’ disease loci versus ‘susceptibility’ loci. Am J Hum Genet 1993, 52:135-143. A consideration of the limitations of linkage studies of complex diseases. For susceptibility loci, association analyses will often be more powerful.
18. Schaid DJ, Sommer SS: Comparison of statistics for candidate-gene association studies using cases and parents. Am J Hum Genet 1994, 55:402-409.
19. Spielman RS, McGinnis RE, Ewens WJ: Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes meiiitus (IDDM). Am J Hum Genet 1993, 52:506-516. This paper describes some statistical properties of the transmission-disequilibrium test and presents a case in which it shows strong evidence of linkage, whereas tests of haplotype sharing showed none.
20. Thomson G: Mapping disease genes: family-based association studies. Am J Hum Genet 1995, 57:487-498.
21. Griffin HG, Griffin AM: DNA sequencing. Recent innovations and future trends. Appl Biochem Biotech 1993, 38:147-159.
22. Grompe M: The rapid detection of unknown mutations in nucleic acids. Nature Genet 1993, 5:111-117.
23. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989, 86:2766-2770.
24. Ainsworth PJ, Surh LC, Coulter MMB: Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs ¡31 variant. Nucl Acids Res 1991, 19:405-406.
25. Jaksch M, Gerbitz K-D, Kilger C: Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis. Clin Biochem 1995, 28:503-509.
26. Myers RM, Lumelsky N, Lerman LS, Maniatis T: Detection of single base substitutions in total genomic DNA. Nature 1985, 313:495-498.
27. Myers RM, Fischer SG, Maniatis T, Lerman LS: Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis. Nucl Acids Res 1985,13:3111-3129.
28. Abrams ES, Murdaugh SE, Lerman LS: Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp. Genomics 1990, 7:463-475.
29. Takahashi N, Hiyama K, Kodaira M, Satoh C: An improved method for the detection of genetic variations in DNA with denaturing gradient gel electrophoresis. Mutation Res 1990, 234:61-70.
30. Montandon AJ, Green PM, Gianelli F, Bentley DR: Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucl Acids Res 1989, 17:3347-3358.
31. Zheng H, Hasty P, Brenneman MA, Grompe M, Gibbs RA, Wilson JH, et al.: Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci USA 1991, 88:8067-8071.
32. Deeb SS, Failor RA, Brown BG, Brunzell JD, Albers JJ, Motulsky AG, et al.: Association of apolipoprotein B gene variants with plasma apoB and low density lipoprotein (LDL) cholesterol levels. Hum Genet 1992, 88:463-470.
33. Piedrahita JA, Zhang SH, Hagaman JR, Oliver PM, Maeda N: Generation of mice carrying a mutant apolipoprotein E gene inactivated by gene targeting in embryonic stem cells. Proc Natl Acad Sci USA 1992, 89:4471-4475.
34. Zhang SH, Reddick RL, Piedrahita JA, Maeda N: Spontaneous hypercholesterolemia and arterial lesions in mice lacking apolipoprotein E. Science 1992, 258:468-471. Mice lacking apo E fed normal diets developed arterial lesions similar to those of early atherosclerosis in humans. Some of the changes in plasma lipoprotein distributions were perhaps not expected.
35. Smithies O, Maeda N: Gene targeting approaches to complex genetic diseases: atherosclerosis and essential hypertension. Proc Natl Acad Sci USA 1995, 92:5266-5272.
36. Smithies O, Kim H-S: Targeted gene duplication and disruption for analyzing quantitative genetic traits in mice. Proc Natl Acad Sci USA 1994, 91:3612-3615. An example, using the angiotensinogen gene, of advances in transgenic technology of great potential use for investigating quantitative traits and complex diseases. The controlled manipulation of the copy number of a gene against a fixed genetic background holds much promise for testing gene-gene and gene-environment interactions.
37. Ow DW, Wood KV, DeLuca M, de Wet JR, Helinski DR, Howell SH: Transient and stable expression of the firefly luciferase gene in plant cells and transgenic plants. Science 1986, 234:856-859.
38. de Wet JR, Wood KV, DeLuca M, Helinski DR, Subramani S: Firefly luciferase gene: structure and expression in mammalian cells. Mol Cell Biol 1987, 7:725-737.
39. Sayle RA, Milner-White EJ: RASMOL: biomolecular graphics for all. Trends Biochem Sci 1995, 20:374-376.
40. Sobell JL, Heston LL, Sommer SS: Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility. Genomics 1992, 12:1-6.
41. Julier C, Lucassen A, Villedieu P, Delepine M, Levy-Marchal C, Danzé PM, et al.: Multiple DNA variant association analysis: application to the insulin gene region in type I diabetes. Am J Hum Genet 1994, 55:1247-1254. This paper describes an approach to analyzing several polymorphisms within a candidate region simultaneously, and applies it to the insulin gene and type 1 diabetes.
42. Templeton AR, Boerwinkle E, Sing CF: A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping. I. Basic theory and an analysis of alcohol dehydrogenase activity in Drosophila. Genetics 1987, 117:343-351. This paper introduces the concept of cladistic analysis. Statistical methods appropriate for use for natural populations are introduced in the second paper of the series.
43. Templeton AR, Sing CF, Kessling A, Humphries S: A cladistic analysis of phenotype associations with haplotypes inferred from restriction endonuclease mapping. II. The analysis of natural populations. Genetics 1988, 120:1145-1154. This paper extends cladistic analysis to natural populations.
44. Templeton AR, Crandall KA, Sing CF: A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping and DNA sequence data. III. Cladogram estimation. Genetics 1992, 132:619-633.
45. Templeton AR, Sing CF: A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping. IV. Nested analyses with cladogram uncertainty and recombination. Genetics 1993, 134:659-669.
46. Hallman DM, Visvikis S, Steinmetz J, Boerwinkle E: The effect of variation in the apolipoprotein B gene on plasma lipid and apolipoprotein B levels. I. A likelihood-based approach to cladistic analysis. Ann Hum Genet 1994, 58:35-64.
47. Mahley RW: Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988, 240:622-630.
48. Davignon J, Gregg RE, Sing CF: Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988, 8:1-21.
49. Hallman DM, Boerwinkle E, Saha N, Sandholzer C, Menzel HJ, Csizir A, et al.: The apolipoprotein E polymorphism: a comparison of allele frequencies and effects in nine populations. Am J Hum Genet 1991, 49:338-349.
50. Stengrd JH, Zerba KE, Pekkanen J, Ehnholm C, Nissinen A, Sing CF: Apolipoprotein E polymorphism predicts death from coronary heart disease in a longitudinal study of elderly Finnish men. Circulation 1995, 91:265-269. This was an important prospective study of genetic risks in cardiovascular disease. The e4 allele was significantly more prevalent among those who died of coronary heart disease during a 5-year period for two geographically separate samples of Finnish men.
51. Tikkanen MJ, Huttunen JK, Ehnholm C, Pietinen P: Apolipoprotein E4 homozygosity predisposes to serum cholesterol elevation during high fat diet. Arteriosclerosis 1990, 10:285-288.
52. Boerwinkle E, Brown SP, Rohrbach K, Gotto AM Jr, Patsch W: Role of apolipoprotein E and B gene variation in determining response of lipid, lipoprotein, and apolipoprotein levels to increased dietary cholesterol. Am J Hum Genet 1991, 49:1145-1154.
53. Glatz JFC, Demacker PNM, Turner PR, Katan MB: Response of serum cholesterol to dietary cholesterol in relation to apolipoprotein E phenotype. Nutr Metab Cardiovasc Dis 1991, 1:13-17.
54. Manttari M, Koskinen P, Ehnholm C, Huttunen JK, Manninen V: Apolipoprotein E polymorphism influences the serum cholesterol response to dietary intervention. Metabolism 1991, 40:217-221.
55. Savolainen MJ, Rantala M, Kervinen K, Jarvi L, Suvanto K, Rantala T, et al.: Magnitude of dietary effects on plasma cholesterol concentration: role of sex and apolipoprotein E phenotype. Atherosclerosis 1991, 86:145-152.
56. Cobb MM, Teitlebaum H, Risch N, Jekel J, Ostfeld A: Influence of dietary fat, apolipoprotein E phenotype, and sex on plasma lipoprotein levels. Circulation 1992, 86:849-857.
57. Lehtimaki T, Moilanen M, Solakivi T, Laippala P, Ehnholm C: Cholesterol-rich diet induced changes in plasma lipids in relation to apolipoprotein E phenotype in healthy students. Ann Med 1992, 24:61-66.
58. Xu C-F, Boerwinkle E, Tikkanen MJ, Huttunen JK, Humphries SE, Talmud PJ: Genetic variation at the apolipoprotein gene loci contribute to response of plasma lipids to dietary change. Genet Epidemiol 1990, 7:261-275.
59. Talmud PJ, Boerwinkle E, Xu C, Tikkanen MJ, Pietinen P, Huttunen JK, et al.: Dietary intake and gene variation influence the response of plasma lipids to dietary intervention. Genet Epidemiol 1992, 9:249-260.
60. Gylling H, Miettinen TA: Cholesterol absorption and synthesis related to low density lipoprotein metabolism during varying cholesterol intake in men with different apoE phenotypes. J Lipid Res 1992, 33:1361-1371. A study of the effects of apo E on cholesterol metabolism during low- and high-cholesterol diets. The e4 allele was associated with higher cholesterol absorption and lower synthesis. This is cited as an example of a study in which the measure of a ‘response’ was refined beyond measurements of plasma lipid levels.
61. Kesaniemi YA, Ehnholm C, Miettinen TA: Intestinal cholesterol absorption efficiency in man is related to apoprotein E phenotype. J Clin Invest 1987, 80:578-581.
62. Dreon DM, Fernstrom HA, Miller B, Krauss RM: Apolipoprotein E isoform phenotype and LDL subclass response to a reduced-fat diet. Arterioscier Thromb Vase Biol 1995, 15:105-111. Changes in LDL subfraction distributions in response to changes in dietary fat were measured using a randomized crossover design. Results suggested that lowering the dietary fat intake of subjects with the e4 allele does lower their plasma cholesterol level, but might shift the distribution of LDL subfractions toward a more atherogenic profile.
63. Eichner JE, Kuller LH, Orchard TJ, Grandits GA, McCallum LM, Ferrell RE, et al.: Relation of apolipoprotein E phenotype to myocardial infarction and mortality from coronary artery disease. Am J Cardiol 1993, 71:160-165.
64. Nestruck AC, Bouthillier D, Sing CF, Davignon J: Apolipoprotein E polymorphism and plasma cholesterol response to probucol. Metabolism 1987, 36:743-747.
65. de Knijff P, Stalenhoef AFH, Mol MJTM, Leuven JAG, Smit J, Erkelens DW, et al.: Influence of apo E polymorphism on the response to simvastatin treatment in patients with heterozygous familial hypercholesterolemia. Atherosclerosis 1990, 83:89-97.
66. O’Malley JP, Illingworth DR: The influence of apolipoprotein E phenotype on the response to lovastatin therapy in patients with heterozygous familial hypercholesterolemia. Metabolism 1990, 39:150-154.
67. Ojala J-P, Helve E, Ehnholm C, Aalto-Setala K, Kontula KK, Tikkanen MJ: Effect of apolipoprotein E polymorphism and Xbal polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non-familial hypercholesterolaemia. J Intern Med 1991, 230:397-405.
68. Carmena R, Roederer G, Mailloux H, Lussier-Cacan S, Davignon J: The response to lovastatin treatment in patients with heterozygous familial hypercholesterolemia is modulated by apolipoprotein E polymorphism. Metabolism 1993, 42:895-901.
69. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, et al.: Apolipoprotein E: high avidity binding to (3-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 1993, 90:1977-1981.