Genetic structure of five susceptibility gene regions for coronary artery disease: Disequilibria within and among regions

Human Genetics

Volumn 103, Issue 3, 1998, Pages 346-354

  Zerba, Kim E ^a,c   Ferrell, Robert E ^b   Sing, Charles F ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c Center for Language and Brain   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN A4; APOLIPOPROTEIN B; APOLIPOPROTEIN C3; APOLIPOPROTEIN E; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN RECEPTOR;

ALLELE; ARTICLE; CHROMOSOME 19; CHROMOSOME 2; CHROMOSOME 8; CORONARY ARTERY DISEASE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; NORMAL HUMAN; PRIORITY JOURNAL; UNITED STATES;

APOLIPOPROTEINS; CORONARY DISEASE; FEMALE; GENETIC MARKERS; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; LIPOPROTEIN LIPASE; MALE; MINNESOTA; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, LDL;

EID: 0031706439     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050828     Document Type: Article

References (90)

1. Benlian P, Boileau C, Loux N, Pastier D, Masliah J, Coulon M, Nigou M, Ragab A, Guimard J, Ruidavets JB, Bona-Pellié C, Fruchart JC, Douste-Blazy P, Bereziat G, Junien C (1991) Extended haplotypes and linkage disequilibrium between 11 markers at the APOAI-C3-A4 gene cluster on chromosome 11. Am J Hum Genet 48:903-910
2. Berg K, Powell LM, Wallis SC, Pease R, Knott TJ, Scott J (1986) Genetic linkage between the antigenic group (Ag) and the apolipoprotein B gene: assignment of the Ag locus. Proc Natl Acad Sci USA 83:7367-7370
3. Bickeböller H, Margaritte-Jeannin P, Babron M-C, Clerget-Darpoux F (1995) Systematic search of susceptibility loci with methods using gametic disequilibrium. Genet Epidemiol 12:577-582
4. Blackhart BD, Ludwig EM, Pierotti VR, Caiati L, Onasch MA, Wallis SC, Powell L, Pease R, Knott TJ, Chu M-L, Mahley RW, Scott J, McCarthy BJ, Levy-Wilson B (1986) Structure of the human apolipoprotein B gene. J Biol Chem 261:15364-15367
5. Boerwinkle E, Chan L (1989) A three codon insertion/deletion polymorphism in the signal peptide region of the human apolipoprotein B (APOB) gene directly typed by the polymerase chain reaction. Nucleic Acids Res 17:4003
6. Borresen AL, Moller P, Berg K (1988) Linkage disequilibrium analyses and restriction mapping of four RFLPs at the proα2(I) collagen locus: lack of correlation between linkage disequilibrium and physical distance. Hum Genet 78:216-221
7. Briscoe D, Stephens JC, O'Brien SJ (1994) Linkage disequilibrium in admixed populations: applications in gene mapping. J Hered 85:59-63
8. Brower V (1998) Mining the genetic riches of human populations. Nat Biotechnol 16:337-339
9. Brown MS, Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis. Science 232:34-47
10. Brown PO, Hartwell L (1998) Genomics and human disease variations - variations on variation. Nat Genet 18:91-93
11. Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengård J, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF (1998) Haplotype structure and population genetic inferences from nucleotide sequence variation in human lipoprotein lipase. Am J Hum Genet 63:595-612
12. Coleman RT, Gonzalez PA, Funke H, Assmann G, Levy-Wilson B, Frossard PM (1986) Polymorphisms in the apolipoprotein AI-CIII gene complex. Mol Biol Med 3:213-228
13. Davignon J, Gregg RE, Sing CF (1988) Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8:1-21
14. Deeb SS, Peng R (1989) Structure of the human lipoprotein lipase gene. Biochemistry 28:4131-4135
15. Devlin B, Risch N (1995) A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29:311-322
16. Ewens WJ, Spielman RS (1995) The transmission/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet 57:455-464
17. Falconer DS, Mackay TFC (1996) Introduction to quantitative genetics, 4th edn. Longman Group, Essex
18. Fielding CJ, Shore VG, Fielding PE (1972) A protein cofactor of lecithin:cholesterol acyltransferase. Biochem Biophys Res Commun 46:1493-1498
19. Fisher KL, Fitzgerald GA, Lawn RM (1987) Two polymorphisms in the human lipoprotein lipase (LPL) gene. Nucleic Acids Res 15:7657
20. Funke H, Reckwerth A, Stapenhorst D, Schluze Beiering M, Jansen M, Assman G (1988) BstNI (EcoRII) RFLP in the lipoprotein lipase gene (LPL). Nucleic Acids Res 16:2741
21. Ghosh S (1995) Probability and complex disease genes. Nat Genet 9:223-224
22. Goldstein JL, Brown MS (1989) Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1215-1250
23. Haviland MB, Kessling AM, Davignon J, Sing CF (1991) Estimation of Hardy-Weinberg and pairwise disequilibrium in the apo AI-CIII-AIV gene cluster. Am J Hum Genet 49:350-365
24. Haviland MB, Kessling AM, Davignon J, Sing CF (1995) Cladistic analysis of the apolipoprotein AI-CIII-AIV gene cluster using a healthy French Canadian sample. I. Haploid analysis. Ann Hum Genet 59: 211-231
25. Haviland MB, Ferrell RE, Sing CF (1997) Association between common alleles of the low-density lipoprotein receptor gene region and interindividual variation in plasma lipid and apolipoprotein levels in a population-based sample from Rochester, Minnesota. Hum Genet 99: 108-114
26. Hedrick PW (1987) Gametic disequilibrium measures: proceed with caution. Genetics 117:331-341
27. Hegele RA, Plaetke R, Lalouel J-M (1990) Linkage disequilibrium between DNA markers at the low-density lipoprotein receptor gene. Genet Epidemiol 7:69-81
28. Heinzmann C, Ladias J, Antonarakis S, Kirchgessner T, Schotz M, Lusis AJ (1987) RFLP for the human lipoprotein lipase (LPL) gene: HindIII. Nucleic Acids Res 15:6763
29. Hill WG, Weir BS (1994) Maximum-likelihood estimation of gene location by linkage disequilibrium. Am J Hum Genet 54:705-714
30. Hobbs HH, Esser V, Russell DW (1987) Avail polymorphism in the human LDL receptor gene. Nucleic Acids Res 15:379
31. Hobbs HH, Russell DW, Brown MS, Goldstein JL (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet 24:133-170
32. Jorde LB (1995a) Linkage disequilibrium as a gene-mapping tool. Am J Hum Genet 56:11-14
33. Jorde LB (1995b) Reply to Zapata and Visedo. Am J Hum Genet 57:191-193
34. Jorde LB, Watkins WS, Carlson M, Groden J, Albertsen H, Thliveris A, Leppert M (1994) Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region [see comments]. Am J Hum Genet 54:884-898
35. Kahn P (1996) Gene hunters close in on elusive prey. Science 271:1352-1354
36. Kamboh MI, Ferrell RE, Kottke BA (1988) Genetic studies of human apolipoproteins. V. A novel rapid procedure to screen apolipoprotein E polymorphism. J Lipid Res 29:1535-1543
37. Kaplan NL (1995) Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population. Am J Hum Genet 57:1486-1498
38. Kaplan NL, Hill WG, Weir BS (1995) Likelihood methods for locating disease genes in nonequilibrium populations. Am J Hum Genet 56:18-32
39. Kaprio J, Ferrell RE, Kottke BA, Kamboh MI, Sing CF (1991) Effects of polymorphisms in apolipoproteins E, AIV, and H on quantitative traits related to risk for cardiovascular disease. Arterioscler Thromb Vasc Biol 11:1330-1348
40. Karathanasis SK (1985) Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes. Proc Natl Acad Sci USA 82:6374-6378
41. Kessling AM, Horsthemke B, Humphries SE (1985) A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals. Clin Genet 28:296-306
42. Kirchgessner TG, Chuat J-C, Heinzmann C, Etienne J, Guilhot S, Svenson K, Ameis D, Pilon C, d'Auriol L, Andalibi A, Schotz MC, Galibert F, Lusis AJ (1989) Organization of the human lipoprotein lipase gene and evolution of the lipase gene family. Proc Natl Acad Sci USA 86:9647-9651
43. Kotze MJ, Relief AE, Brink PA, Weich HF (1986) A DNA polymorphism in the human low-density lipoprotein receptor gene. S Afr Med J 70:77-79
44. Kruglyak L (1997) What is significant in whole-genome linkage disequilibrium studies? Am J Hum Genet 61:810-812
45. Leighton JK, Joyner J, Zamarripa J, Deines M, Davis RA (1990) Fasting decreases apolipoprotein B mRNA editing and the secretion of small molecular weight apoB by rat hepatocytes: evidence that the total amount of apoB secreted is regulated posttranscriptionally. J Lipid Res 31:1663-1668
46. Leitersdorf E, Hobbs HH (1988) Human LDL receptor gene: HincII polymorphism detected by gene amplification. Nucleic Acids Res 16:7215
47. Lewontin RC (1988) On measures of gametic disequilibrium. Genetics 120:849-852
48. Li S, Oka K, Gallon D, Stocks J (1988) PvuII RFLP at the human lipoprotein lipase (LPL) gene locus. Nucleic Acids Res 16:2358
49. Mahley RW (1988) Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 240:622-630
50. Moll PP, Michels VV, Weidman WH, Kottke BA (1989) Genetic determination of plasma apolipoprotein AI in a population-based sample. Am J Hum Genet 44:124-139
51. Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, Sheffield VC, Sunden S, Duyk GM, Weissenbach J, Gyapay G, Dib C, Morrissette J, Lathrop JM, Vignal A, White R, Matsunami N, Geken S, Melis R, Albertsen H, Plaetke R, Odelberg S, Ward D, Dausset J, Cohen D, Cann H (1994) A comprehensive human linkage map with centimorgan density. Science 265:2049-2054
52. Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengård J, Salomaa V, Vartianinen E, Boerwinkle E, Sing CF (1998) DNA sequence diversity in a 9.7 kb region of the human lipoprotein lipase gene. Nat Genet 19:233-240
53. Oka K, Tkalcevic G, Nakano T, Tucker H, Ishimura-Oka K, Virgil W (1991) Structure and polymorphic map of human lipoprotein lipase gene. Biochim Biophys Acta 1090:357
54. Priestley L, Knott T, Wallis S, Powell L, Pease R, Scott J (1985) RFLP for the human apolipoprotein B gene. IV MspI. Nucleic Acids Res 13:6792
55. Rall SC Jr, Weisgraber KH, Mahley RW (1982) Human apolipoprotein E: the complete amino acid sequence. J Biol Chem 257:4171-4178
56. Rees A, Shoulders CC, Stocks J, Galton DJ, Baralle FE (1983) DNA polymorphisms adjacent to human apoprotein A-1 gene: relation to hypertriglyceraemia. Lancet 1:444-446
57. Reilly SL, Ferrell RE, Kottke BA, Sing CF (1992) The gender specific apolipoprotein E genotype influence on the distribution of lipids and apolipoproteins in the population of Rochester, Minnesota. II. Regression relationships with concomitants. Am J Hum Genet 51:1311-1324
58. Risch N, Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273:1516-1517
59. Schaefer EJ, Eisenberg S, Levy RI (1978) Lipoprotein apoprotein metabolism. J Lipid Res 19:667-687
60. Shoulders CC, Myant NB, Sidoli A, Rodriguez JC, Cortese C, Baralle FE, Cortese R (1985) Molecular cloning of human LDL apolipoprotein B cDNA. Atherosclerosis 58:277-289
61. Sing CF, Davignon J (1985) Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet 37:268-285
62. Sing CF, Haviland MB, Templeton AR, Zerba KE, Reilly SL (1992a) Biological complexity and strategies for finding DNA variations responsible for inter-individual variation in risk of a common chronic disease, coronary artery disease. Ann Med 24:539-547
63. Sing CF, Haviland MB, Zerba KE, Templeton AR (1992b) Application of cladistics to the analysis of genotype-phenotype relationships. Eur J Epidemiol 8 [Suppl 1]:3-9
64. Sinnock P, Sing CF (1972) Analysis of multilocus genetic systems in Tecumseh, Michigan. II. Consideration of the correlation between non-alleles in gametes. Am J Hum Genet 24:393-415
65. Stephens JC, Briscoe D, O'Brien SJ (1994) Mapping by admixture linkage disequilibrium in human populations: limits and guidelines. Am J Hum Genet 55:809-824
66. Südhof TC, Goldstein JL, Brown MS, Russell DW (1985) The LDL receptor gene: a mosaic of exons shared with different proteins. Science 228:815-822
67. Tanksley SD (1993) Mapping polygenes. Annu Rev Genet 27:205-233
68. Templeton A (1995) A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping or DNA sequencing. V. Analysis of case/control sampling designs: Alzheimer's disease and the apoprotein E locus. Genetics 140:403-409
69. Templeton AR (1996) Cladistic approaches to identifying determinants of variability in multifactorial phenotypes and the evolutionary significance of variation in the human genome. In: Chadwick D, Cardew G (eds) Variation in the human genome. Ciba Foundation Symposium 197. Wiley, Chichester, pp 259-283
70. Templeton AR, Sing CF (1993) A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping and DNA sequence data. IV. Nested analyses under cladogram uncertainty and recombination. Genetics 134:659-669
71. Templeton AR, Boerwinkle E, Sing CF (1987) 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 117:343-351
72. Templeton AR, Sing CF, Kessling A, Humphries S (1988) A cladistic analysis of phenotype associations with haplotypes inferred from restriction endonuclease mapping. II. The analysis of natural populations. Genetics 120:1145-1154
73. Templeton AR, Crandall KA, Sing CF (1992) A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping and DNA sequence data. III. Cladogram estimation. Genetics 132:619-633
74. Terwilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic loci. Am J Hum Genet 56:777-787
75. Thompson EA, Neel JV (1997) Allelic disequilibrium as a function of social and demographic history. Am J Hum Genet 60:197-204
76. Thompson EA, Deeb S, Walker D, Motulsky AG (1988) The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet 42:113-124
77. Turner ST, Weidman WH, Michels VV, Reed TJ, Ormson CL, Fuller T, Sing CF (1989) Distribution of sodium-lithium countertransport and blood pressure in Caucasians five to eighty-nine years of age. Hypertension 13:378-391
78. United States Bureau of the Census (1983) 1980 census of population and housing. Census tracts. Rochester, Minn. US Department of Commerce, Bureau of the Census, Washington, DC
79. United States Bureau of the Census (1993) 1990 census of population and housing. Population and housing characteristics for census tracts and block numbering areas. Rochester, Minn. US Department of Commerce Economics and Statistics, Administration Bureau of the Census, Washington, DC
80. 2 test to detect inbreeding effects in natural populations. Am Nat 104:355-365
81. Weeks DE, Lathrop M (1995) Polygenic disease: methods for mapping complex disease traits. Trends Genet 11:513-519
82. Weir BS (1996) Genetic data analysis II: methods for discrete population genetic data, 2nd edn. Sinauer Associates, Sunderland
83. Weir BS, Brooks LD (1986) Disequilibrium on human chromosome 11p. Genet Epidemiol Suppl 1:177-183
84. Weir BS, Cockerham CC (1989) Complete characterization of disequilibrium at two loci. In: Feldman MW (ed) Mathematical evolutionary theory. Princeton Univeristy Press, Princeton, pp 86-110
85. Weissman SM (1995) Genetic bases for common polygenic diseases. Proc Natl Acad Sci USA 92:8543-8544
86. Wijsman EM (1987) A deductive method of haplotype analysis in pedigrees. Am J Hum Genet 41:356-373
87. Xhignesse M, Lussier-Cacan S, Sing CF, Kessling AM, Davignon J (1991) Influences of common variants of apolipoprotein E on measures of lipid metabolism in a sample selected for health. Arterioscler Thromb Vasc Biol 11:1100-1110
88. Yamakawa K, Okafuji T, Iwamura Y, Russell DW, Hamaguchi H (1987) TaqI polymorphism in the human LDL receptor gene. Nucleic Acids Res 15:7659
89. Zapata C, Visedo G (1995) Gametic disequilibrium and physical distance. Am J Hum Genet 57:190-191
90. Zerba KE, Kessling AM, Davignon J, Sing CF (1991) Genetic structure and the search for genotype-phenotype relationships: an example from disequilibrium in the Apo B gene region. Genetics 129:525-33