Population genetic analysis of the genes APOE, APOB (3′VNTR) and ACE in some black and Amerindian communities from Colombia

Human Heredity

Volumn 52, Issue 1, 2001, Pages 14-33

  Jaramillo Correa, J P ^a   Keyeux, G ^b   Ruiz Garcia, Manuel ^b   Rodas, C ^b   Bernal, J ^b  

^a UNIVERSIDAD DE LOS ANDES   (Colombia)

^b PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

Author keywords

ACE; Afrocolombian; Amerindian; APOB; APOE; Colombia; Population genetics; Spatial structure

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN E; DIPEPTIDYL CARBOXYPEPTIDASE;

ACE GENE; APOB GENE; APOE GENE; ARTICLE; COLOMBIA; GENE; GENE LOCUS; GENETIC ANALYSIS; GEOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; POPULATION GENETICS;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; APOLIPOPROTEINS B; APOLIPOPROTEINS E; COLOMBIA; CORONARY DISEASE; ETHNIC GROUPS; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC MARKERS; GENOTYPE; HUMANS; INDIANS, SOUTH AMERICAN; MYOCARDIAL INFARCTION; PEPTIDYL-DIPEPTIDASE A; PHYLOGENY; VARIATION (GENETICS);

EID: 0035009424     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000053351     Document Type: Article

References (97)

1. Stampfer MJ, Sacks FM, Salvini S, Willet WC, Hennekens CH: A prospective study of cholesterol, apolipoproteins and the risk of the myocardial infarction. N Engl J Med 1991;325: 373-381.
2. Mahley RW: Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology. Science 1984;240:622-630.
3. Ehlers W, Riordan JF: Angiotensin-converting enzyme: New concepts concerning its biological role. Biochemistry 1989;28:5311-5318.
4. Olaissen B, Teisberg P, Gedde-Dahl T: The locus of apolipoprotein E is linked to the complement component 3 locus on chromosome 19 in man. Hum Genet 1982;62:233-236.
5. Paik Y-K, Chang DJ, Reardon CA, Davies GE, Mahley RW, Taylor JM: Nucleotide sequence and structure of the human apolipoprotein E gene. Proc Natl Acad Sci USA 1985;82:3445-3449.
6. Zannis VI, Breslow JL: Human very low density apolipoprotein E isoprotein polymorphism is explained by genetic variation and post-translational modification. Biochemistry 1981; 20:1033-1041.
7. Utermann G, Hess M, Steinmetz A: Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinemia in man. Nature 1977; 269:604-607.
8. Lusis AJ: Genetic factors affecting blood lipoproteins: The candidate gene approach. J Lipid Res 1988;29:397-431.
9. Powell LM, Wallis SC, Pease RJ, Edward YH, Knott TJ, Scott J: A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine. Cell 1987;50:831-840.
10. Huang LS, Breslow JL: A unique AT-rich hypervariable minisatellite 3′ to the ApoB gene defines a high information restriction fragment length polymorphism. J Biol Chem 1987;262: 8952-8955.
11. Ludwig EH, Friedl W, McCarthy B: High-resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am J Hum Genet 1989;45:458-464.
12. Desmarais E, Vigneron S, Buresi C, Cambien F, Cambou JP, Roizes G: Variant mapping of the Apo(B) AT rich minisatellite. Dependence on nucleotide sequence of the copy number variations. Instability of the non-canonical alleles. Nucleic Acids Res 1993;21:2179-2184.
13. Buresi C, Desmarais E, Vigneron S, Lamarti H, Smaoui N, Cambien F, Roizes G: Structural analysis of the minisatellite present at the 3′ end of the human apolipoprotein B gene: New definition of the alleles and evolutionary implications. Hum Mol Genet 1996;5:61-68.
14. Deka R, Chakraborty R, DeCroo S, Rothhammer F, Barton S, Ferrel RE: Characteristic of polymorphism at a variable number of tandem repeat (VNTR) locus 3′ to the apolipoprotein B gene in five human populations. Am J Hum Genet 1992;51:1325-1333.
15. Hebert C, Houot A-M, Corvol P, Soubrier F: Structure of the angiotensin I-converting enzyme gene. J Biol Chem 1991;266:15377-15383.
16. Cambien F, Odette P, Lecerf L, Evans A, Cambous J-P, Arveiler D, Luc G, Brad J-M, Bara L, Ricard S, Tiret L, Amouye P, Alhene-Gelas F, Soubrier F: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992;359:641-644.
17. Lehman H, Duque I, Fornaguera M: Grupos sanguíneos entre los indios Guambiano-Kokonuco. Rev Inst Etnol Nac 1944;1:1-23.
18. Arends T, Gallango L: Transferrin groups in South American Indians. Bibl Haemat 1965; 23:405-411.
19. Kirk RL, McDermid EM, Blake NM, Gajdusek DC, Leyshon WC, MacLennan R: Blood group, serum protein and red cell enzyme groups of Amerindian populations in Colombia. Am J Phys Anthropol 1974;41:301-316.
20. Bernal JE, Zarante IM, Ruiz-Garcia M: Spatial genetic structure of different blood groups in Colombian Indian tribes. Braz J Genet 1996; 19/2:194.
21. Trachtenberg EA, Keyeux G, Bernal JE, Rhodas MC, Erlich HA: Results of Expedicion Humana. I. Analysis of HLA class II (DRB1-DQA1-DQB1-DPB1) alleles and DR-DQ haplotypes in nine Amerindian populations from Colombia. Tissue Antigens 1996;48:174-181.
22. Trachtenberg EA, Keyeux G, Bernal J, Noble JA, Erlich HA: Results of Expedicion Humana. II. Analysis of HLA class II alleles in three African American populations from Colombia using the PCR/SSOP: Identification of a novel DQB!*02 (*0203) allele. Tissue Antigens 1996; 48:192-198.
23. Keyeux G, Rodas MC, Bautista S, Carvajal E, Bernal JE, Ruiz-Garcia M: Tracing African admixture in Colombia. Immunoglobulin switch alpha region allele in various populations. Results of Expedicion Humana. Am J Phys Anthropol, submitted.
24. Keyeux G, Rodas MC, Ruiz-Garcia M: Haplogrupos fundadores del DNA mitocondrial en poblaciones colombianas: aporte a los estudios de América. Submitted.
25. Ruiz-Garcia M, Keyeux G, Jaramillo JP, Bernal JE: Population genetic relationships among Colombian Indian tribes using IGHA1 and IGHA2 switch alpha region alleles: Multivariate analyses. Ann Hum Genet, submitted.
26. Ruiz-Garcia M: Multiple regression analysis among mtDNA haplotypes frequencies and demographic and reproductive parameters in Amerindian populations of Colombia. In preparation.
27. Ruiz-Garcia M, Zarante IM, Bernal JE: Blood groups in Colombian Indian tribes. II. Spatial genetic structures. In preparation.
28. Ruiz-Garcia M: Overall and microgeographical mtDNA spatial patterns in the Americas. J Hum Biol, submitted.
29. Kamboh MI, Weiss KM, Ferrell RE: Genetic studies of human apolipoproteins. XVI. APOE polymorphism and cholesterol levels in the Mayans of the Yucatan Peninsula, Mexico. Clin Genet 1991;39:26-32.
30. Crews DE, Kamboh MI, Mancilha-Carvalho JJ, Kottke B: Population genetics of apolipoprotein A-4, E and H polymorphism in Yanomama Indians of Northwestern Brazil: Associations with lipids, lipoproteins and carbohydrate metabolism. Hum Biol 1993;67:211-224.
31. Scacchi R, Corbo RM, Rickards O, Mantuano E, Guevara A, de Stefano GF: Apolipoprotein B and E genetic polymorphism in the Cayapa Indians of Ecuador. Hum Biol 1997;69:375-382.
32. Zago MA, Silva WA, Tavella MH, Santos S, Guerreiro JF, Figueiredo MS: Interpopulational and intrapopulational genetic diversity of Amerindians as revealed by six variable numbers of tandem repeats. Hum Hered 1996;46: 274-289.
33. Wenham PR, Price WH, Blundell G: Apolipoprotein E genotyping by one-stage PCR. Lancet 1991;337:1158-1159.
34. Nei M: Analysis of gene diversity in subdivided populations. Proc Natl Acad Sci USA 1973;70: 3321-3323.
35. Guo SW, Thompson EA: Performing the exact test of Hardy-Weinberg proportions for multiple alleles. Biometrics 1992;48:361-372.
36. Nei M: Molecular Evolutionary Genetics. New York, Columbia University Press, 1987.
37. Workman PL, Niswander JD: Population studies on southwestern Indian tribes. II. Local genetic differentiation in the Papago. Am J Hum Genet 1970;22:24-32.
38. Ruiz-Garcia M: Analysis of the evolution and genetic diversity within and between Balearic and Iberian cat populations. J Hered 1993;84: 173-180.
39. Weir BS, Cockerham CC: Estimating F-statistics for the analysis of population structure. Evolution 1984;38:1358-1370.
40. Wright S: Evolution in Mendelian populations. Genetics 1931;16:97-159.
41. Wright S: The distribution of gene frequencies under irreversible mutation. Proc Natl Acad Sci USA 1938;24:253-259.
42. Nei M: Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics 1978;89:583-590.
43. Reynolds JB, Weir BS, Cockerham CC: Estimation of the coancestry coefficient: Basis for a short-term genetic distance. Genetics 1983; 105:767-779.
44. Cavalli-Sforza LL, Edwards AWF: Phylogenetic analysis: Models and estimation procedures. Evolution 1967;21:550-570.
45. Rogers JS: Measures of genetic similarity and genetic distance. Stud Genet 1972;7:145-156.
46. Prevosti AJ, Ocana J, Alonso G: Distances between populations of Drosophila subobscura based on chromosome arrangement frequencies. Theor Appl Genet 1975;45:231-341.
47. Balakrishnan V, Sanghvi LD: Distance between populations on the basis of attribute data. Biometrics 1968;24:859-865.
48. Sokal RR, Fiala K, Hartl G: OTU stability and factors determining taxonomic stability: Examples from Caminalcules and the Leptodomorpha. Syst Zool 1984;33:387-407.
49. Lefebvre J: Introduction aux Analyses Statistiques Multidimensionelles. Paris, Mason, 1983.
50. Denzin NK: The Research Act. New York, McGraw-Hill, 1978.
51. Sneath PH, Sokal RR: Numerical Taxonomy. San Francisco, Freeman, 1973.
52. Saitou N, Nei M: The neighbor-joining method: A new method for reconstructing phylogenetic trees. Mol Biol Evol 1987;4:406-425.
53. Farris JS: Estimating phylogenetic trees from distance matrices. Am Naturalist 1972;106: 645-668.
54. Fitch WM, Margoliash E: Construction of phylogenetic trees. Science 1967;155:279-284.
55. Lance GN, Williams WT: A general theory of classificatory sorting strategies. I. Hierarchical systems. Comput J 1967;9:373-380.
56. Felsenstein J: Confidence limits on phylogenies: An approach using the bootstrap. Evolution 1985;39:783-791.
57. Mantel NA: The detection of disease clustering and a generalized regression approach. Cancer Res 1967;27:209-220.
58. Kruskal JB: Multidimensional scaling by optimizing goodness of fit to a nonmetric hypothesis. Psychometrika 1964;29:1-27.
59. Kruskal JB: Nonmetric multidimensional scaling: A numerical method. Psychometrika 1964; 29:28-42.
60. Romney AK, Shepard RN, Nerlove SB: Multidimensional scaling. Theory and applications in the behavioral sciences. Theory. New York, Seminar Press, 1972, vol 1.
61. Gower JC, Ross GJS: Minimum spanning trees and single cluster analysis. Appl Stat 1969;18: 54-64.
62. Rohlf FJ: Adaptive hierarchical clustering schemes. Syst Zool 1970;19:58-82.
63. Smouse PE, Long JC, Sokal RR: Multiple regression and correlation extensions of the Matel's test of matrix correspondence. Syst Zool 1986;35:627-632.
64. Nei M: Genetic distance between populations. Am Naturalist 1972;106:283-292.
65. Sphuler JN: Genetic, linguistic, and geographical distances in native North America; in Weiner JS, Huizinga J (eds): The Assessment of populations affinities in man. Oxford, Oxford University Press, 1972, pp 210-230.
66. Hubert LH, Golledge RC, Costanzo CM: Generalized procedures for evaluating spatial auto-correlation. Geogr Anal 1981;13:224-233.
67. Hubert LH, Golledge RG: Measuring association between spatially defined variables: Tjostheim's index and some extensions. Geogr Anal 1982;14:273-278.
68. Cockerham CC, Weir BS: Estimation of gene flow from F-statistics. Evolution 1993;47:855-863.
69. Nei M, Chesser R: Estimation of fixation indices and gene diversities. Ann Hum Genet 1983;41:253-259.
70. Slatkin M: Isolation by distance in equilibrium and non-equilibrium populations. Evolution 1993;47:264-279.
71. Britten HB, Brussard PF, Murphy DD, Ehrlich PR: A test for isolation-by-distance in Central Rocky Mountain and Great Basin populations of Edith's checkerspot butterfly (Euphydras editha). J Hered 1995;86:204-210.
72. Ruiz-Garcia M, Jordana J: Spatial structure and determination of gene flow from allozyme blood markers in the 'Pyrenean Brown' breed, a rare cattle race in Catalonia (Spain). Bioch Genet, in press.
73. Felsenstein J: PHYLIP (Phylogeny Inference Package) version 3.5c (distributed by the author). Seattle, Department of Genetics, University of Washington, 1993.
74. Lewis PO, Zaykin D: Genetic data analysis: Computer program for the analysis of allelic data. Version 1.0. Free program distributed by the authors over the internet from the GDA Home Page at http://chee.unm.edu/gda/, 1997.
75. Valveny N, Esteban E, Kandil M, Moral P: APOE polymorphism in Spanish and Moroccan populations. Clin Genet 1997;51:354-356.
76. Gerdes LU, Klausen IC, Sihm I, Faergeman O: Apolipoprotein E polymorphism in a Danish population compared to findings in other study populations around the world. Genet Epidemiol 1992;9:155-167.
77. Asakawa J-I, Takahashi N, Rosenblum BB, Neel JV: Two-dimensional gel studies of genetic variation in the plasma proteins of Amerindians and Japanese. Hum Genet 1985;70:222-230.
78. Gerdes LU, Gerdes C, Hansen PS, Klausen IC, Faergeman O: Are men carrying the apolipoprotein epsilon 4- or epsilon 2 allele less fertile than epsilon 3 epsilon 3 genotypes? Hum Genet 1996;98:239-242.
79. Scheer WD, Boudreau DA, Malcom GT, Middaugh JP: Apolipoprotein E and atherosclerosis in Alaska natives. Atherosclerosis 1995;114: 197-202.
80. Fridemann NS: África y América: caminos de encuentro. Papeles Ocasionales 1993;1:3-14.
81. Zerkraoui L, Lagarde JP, Paisonier A, Gérard N, Aouizérate A, Lucotte G: High frequency of the apolipoprotein E * 4 allele in African pygmies and most of the African populations in sub-Saharan Africa. Hum Biol 1997;69:575-581.
82. Hanlon CS, Rubinsztein DC: Arginine residues at codons 112 and 158 in the apolipoprotein E gene correspond to the ancestral state in humans. Atherosclerosis 1995;112:85-90.
83. Utermann G: Apolipoprotein E polymorphism in health and disease. Am Heart J 1987;113: 433-440.
84. Kobori S, Nakamura N, Uzawa H, Shichiri M: Influence of apolipoprotein E polymorphism on plasma lipid and apolipoprotein levels, and clinical characteristics of type III hyperlipoproteinemia due to apolipoprotein E phenotype E2/2 in Japan. Atherosclerosis 1988;69:81-88.
85. Hixson JE, Powers PK, McMahan CA: The human apolipoprotein B 3′ hypervariable region: Detection of eight new alleles and comparisons of allele frequencies in blacks and whites. Hum Genet 1993;91:475-479.
86. Ruiz-Garcia M, Keyeux G, Rodas MC, Bernal J: Mitochondrial DNA haplotypes in Amerindian Colombian tribes. II. Genetic relationships and spatial autocorrelation among them. Submitted, 1999.
87. Shriver MD, Jin L, Boerwinkle E, Deka R, Ferrell RE, Chakraborty R: A novel measure of genetic distance for highly polymorphic tandem repeat loci. Mol Biol Evol 1995;12:914-920.
88. Tiret L, Rigat B, Visvikis S, Breda C, Corvol P, Cambien F, Soubrier F: Evidence from combined segregation and linkage analysis that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels. Am J Hum Genet 1992;51:197-205.
89. Ruiz L, Blanché H, Cohen N, Velho G, Cambien F, Cohen D, Passa P, Froguel P: Insertion/deletion polymorphism of the angiotensin-converting enzyme gene is strongly associated with coronary heart disease in non-insulin-dependent diabetes mellitus. Proc Natl Acad Sci 1994;91:3662-3665.
90. Saha N, Talmud PJ, Tay JSH, Humphries SE, Basair J: Lack of association of angiotensin-converting enzyme (ACE), gene insertion/deletion polymorphism with CAD in two Asian populations. Clin Genet 1996;50:121-125.
91. Higashimori K, Zhao Y, Higaki J, Kamitani A, Katsuya T, Nakura J, Miki T, Mikami H, Ogihara T: Association analysis of a polymorphism of the angiotensin converting enzyme gene with essential hypertension in the Japanese population. Biochem Biophys Res Commun 1993; 191:399-404.
92. Bohn M, Berge KE, Bakken A, Erikssen J, Berg K: Insertion/deletion (1/D) polymorphism at the locus for angiotensin I-converting enzyme and parental history of myocardial infarction. Clin Genet 1993;44:298-301.
93. Aprile-Gnisset J: La ciudad colombiana. Bogotá, Instituto Colombiano de Cultura Hispánica, 1991.
94. Callegari-Jacques SM, Salzano FM, Weimer TA, Hutz MH, Black FL, Santos SEB, Guerreiro JF, Mestriner MA, Pandey JP: Further blood genetic studies on Amazonian diversity - Data from four Indian groups. Ann Hum Biol 1994;21:465-481.
95. Firschen JL: Demographic patterns of the Garifuna (Black Caribs) of Belize; in Current Developments in Anthropological Genetics, vol 3: Black Caribs. A Case Study in Biocultural Adaptation. New York, Plenum Press, 1984, pp 67-84.
96. Crawford MH: Antropología Biológica de los Indios Americanos. Madrid, Editorial Mapfre, 1992.
97. De Cervera LA: Atlas de Colombia. Instituto Geográfico Agustin Codazzi. Republica de Colombia. Bogotá, Editolaser, 1992.