Genetic polymorphisms in the renin-angiotensin system in high-altitude and low-altitude native American populations

Annals of Human Genetics

Volumn 67, Issue 1, 2003, Pages 17-25

  Rupert, Jim L ^a   Kidd, K K ^b   Norman, L E ^c   Monsalve, M V ^a   Hochachka, P W ^a   Devine, D V ^a,d  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Stanley Humphries Secondary School   (Canada)

^d CANADIAN BLOOD SERVICES   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ANGIOTENSIN; ANGIOTENSIN 2 RECEPTOR; ANGIOTENSINOGEN; CYTOSINE; DIPEPTIDYL CARBOXYPEPTIDASE; GUANINE; METHIONINE; RENIN; THREONINE; ANGIOTENSIN DERIVATIVE; DNA;

3' UNTRANSLATED REGION; ALLELE; ALTITUDE ACCLIMATIZATION; ALTITUDE DISEASE; AMERICAN INDIAN; ARTICLE; ATMOSPHERIC PRESSURE; CARDIOVASCULAR DISEASE; CONTROLLED STUDY; CULTURAL FACTOR; DEMOGRAPHY; DNA SEQUENCE; FEMALE; FITNESS; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERTENSION; HYPOXIA; INTRON; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; POPULATION GENETICS; PRIORITY JOURNAL; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; ALTITUDE; BLOOD; CLASSIFICATION; GENETICS; METABOLISM;

INSERTION SEQUENCES;

ALTITUDE; ANGIOTENSINS; DNA; GENE FREQUENCY; GENOTYPE; HUMANS; INDIANS, NORTH AMERICAN; PEPTIDYL-DIPEPTIDASE A; POLYMORPHISM, GENETIC; RENIN;

EID: 0041805442     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.2003.00004.x     Document Type: Article

References (57)

1. Ahn, Y.I., Valdez, R., Reddy, A.P., Cole, S.A., Weiss, K.M. & Ferrell, R.E. (1991) DNA polymorphisms of the apolipoprotein AI/CIII/AIV gene cluster influence plasma cholesterol and triglyceride levels in the Mayans of the Yucatan Peninsula, Mexico. Hum Hered 41, 281-289.
2. Atwood, L. D., Kammerer, C. M., Samollow, P. B., Hixson, J. E., Shade, R. E. & MacCluer, J. W. (1997) Linkage of essential hypertension to the angiotensinogen locus in Mexican Americans. Hypertension 30, 326-330.
3. Baker, P. T. (1969) Human adaptation to high altitude. Science 163, 1149-1156.
4. 2 receptor locus. Biol Psychiatry 34, 204-209.
5. Boehringer, S., Epplen, J. T. & Krawczak, M. (2000) Genetic association studies of bronchial asthma-a need for Bonferroni correction? Hum Genet 107, 197.
6. Butler, R., Morris, A. D. & Struthers, A. D. (1997) Angiotensin-converting enzyme gene polymorphism and cardiovascular disease. Clin Sci 93, 391-400.
7. Cambien, F., Poirier, O., Nicaud, V., Herrmann, S. M., Mallet, C., Ricard, S., Behague, I., Hallet, V., Blanc, H., Loukaci, V., Thillet, J., Evans, A., Ruidavets, J. B., Arveiler, D., Luc, G. & Tiret, L. (1999) Sequence diversity in 36 candidate genes for cardiovascular disorders. Am J Hum Genet 65, 183-191.
8. Castellano, M., Muiesan, M. L., Beschi, M., Rizzoni, D., Cinelli, A., Salvetti, M., Pasini, G., Porteri, E., Bettoni, G., Zulli, R. & Agabiti-Rosei, E. (1996) Angiotensin II type 1 receptor A/C1166 polymorphism. Relationships with blood pressure and cardiovascular structure. Hypertension 28, 1076-80.
9. Cavalli-Sforza, L. L., Menozzi, P. & Piazza, A. (1994). The history and geography of human genes. Princeton, N.J.: Princeton University Press.
10. Cook, N. D. (1981). Demographic collapse, Indian Peru, 1520-1620. Cambridge: Cambridge University Press.
11. Demarchi, D. A., Claria, D. M., Dipierri, J. E. & Gardenal, C. N. (2000) Genetic structure of Native Andean populations from Argentina inhabiting different altitudes. Hum Biol 72, 519-525.
12. Evans, A. E., Poirier, O., Kee, F., Lecerf, L., E., M., Falconer, T., Crane, J., O'Rourke, D. F. & Cambien, F. (1994) Polymorphisms of the angiotensin-converting-enzyme gene in subjects who die from coronary heart disease. Quart J Med 87, 211-214.
13. Fatini, C., Abbate, R., Pepe, G., Battaglini, B., Gensini, F., Ruggiano, G., Gensini, G. F. & Guazzelli, R. (2000) Searching for a better assessment of the individual coronary risk profile. The role of angiotensin-converting enzyme, angiotensin II type 1 receptor and angiotensinogen gene polymorphisms. Eur Heart J 21, 633-638.
14. Frossard, P. M., Lestringant, G. G., Elshahat, Y. I., John, A. & Obineche, E. N. (1998) An MboI two-allele polymorphism may implicate the human renin gene in primary hypertension. Hypertens Res 21, 221-225.
15. Gayagay, G., Yu, B., Hambly, B., Boston, T., Hahn, A., Celermajer, D. S. & Trent, R. J. (1998) Elite endurance athletes and the ACE I allele - the role of genes in athletic performance. Hum Genet 103, 48-50.
16. Halushka, M. K., Fan, J. B., Bentley, K., Hsie, L., Shen, N., Weder, A., Cooper, R., Lipshutz, R. & Chakravarti, A. (1999) Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet 22, 239-247.
17. Hurtado, A. (1960) Some clinical aspects of life at high altitudes. Ann Int Med 53, 247-258.
18. Jaillard, A. S., Hommel, M. & Mazetti, P. (1994) Prevalence of stroke at high altitude (3380 m) in Cuzco, a town in Peru. Stroke 26, 562-568.
19. Katsuya, T, Koike, G., Yee, T. W., Sharpe, N., Jackson, R., Norton, R., Horiuchi, M., Pratt, R. E., Dzau, V J. & MacMahon, S. (1995) Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease. Lancet 345, 1600-1603.
20. Keavney, B., McKenzie, C. A., Connell, J. M., Julier, C., Ratcliffe, P. J., Sobel, E., Lathrop, M. & Farrall, M. (1998) Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet 71, 1745-1751.
21. Kerwin, A. J. (1944) Observations on the heart size of natives living at high altitude. Am Heart J 28, 69-80.
22. Kidd, J. R., Black, F. L., Weiss, K. M. & Kidd, K. K. (1991) Studies of three Amerindian populations using nuclear DNA polymorphisms. Hum Biol 63, 775-794.
23. Kim, H. S., Lee, M. M., Oh, B. H., Kim, K. I., Han, K. H., Park, S. K., Sohn, D. W., Yoo, K. Y., Park, Y. B., Choi, Y. S. & Lee, Y. W. (2000) Synergistic effect of angiotensin-converting enzyme and angiotensinogen gene on cardiac hypertrophy. Int J Cardiol 72, 151-161.
24. Lam, K. S., Ma, O. C., Wat, N. M., Chan, L. C. & Janus, E. D. (1999) Beta-fibrinogen gene G/A-455 polymorphism in relation to fibrinogen concentrations and ischaemic heart disease in Chinese patients with type II diabetes. Diabetologia 42, 1250-1253.
25. Makela, M., Barton, S. A., Schull, W. J., Weidman, W. & Rothhammer, F. (1978) The Multinational Andean Genetic and Health Program: IV. Altitude and the blood pressure of the Aymara. J Chronic Dis 31, 587-603.
26. Marticorena, E., Ruiz, L., Severino, J., Galvez, J. & Peñaloza, D. (1969) Systemic blood pressure in white men born at sea level: changes after long residence at high altitudes. Am J Cardiol 23, 364-368.
27. Miura, D. S. (1997) Genetic factors in human hypertension. Curr Opin Nephrol Hypertens 6, 215-218.
28. Montgomery, H. M., Marshall, R., Hemingway, H., Myerson, S., Clarkson, P., Dollery, C., Hayward, M., Holliman, D. E., Jubb, M., World, M., Thomas, E. L., Brynes, A. E., Saeed, N., Barnard, M., Bell, J. D., Prasad, K., Rayson, M., Talmud, P. J. & Humphries, S. (1997) Human gene for physical performance. Nature 393, 221-222.
29. Morris, B. J. (1986) New possibilities for intracellular renin and inactive renin now that the structure of the human renin gene has been elucidated. Clin Sci 71, 345-355.
30. Myerson, S., Hemingway, H., Budget, R., Martin, J., Humphries, S. & Montgomery, H. (1999) Human angiotensin I-converting enzyme gene and endurance performance. J Appl Physiol 87, 1313-1316.
31. Nishiuma, S., Kario, K., Yakushijin, K., Maeda, M., Murai, R., Matsuo, T., Ikeda, U., Shimada, K. & Matsuo, M. (1998) Genetic variation in the promoter region of the beta-fibrinogen gene is associated with ischemic stroke in a Japanese population. Blood Coagul Fibrinolysis 9, 373-379.
32. Opie, L. H. (1999) Angiotensin converting enzyme inhibitors, 3rd edn. Cape Town: University of Cape Town Press.
33. Ramirez, G., Bittle, P. A., Rosen, R., Rabb, H. & Pineda, D. (1999) High altitude living: genetic and environmental adaptation. Aviat Space Environ Med 70, 73-81.
34. Ramos, A., Kruger, H., Muro, M. & Arias-Stella, J. (1967) Patologia del hombre nativo de las grandes alturas. Boletin de la Oficina Sanitaria Panamericana (Washington, DC) 62, 496-502.
35. Rankinen, T., Pérusse, L., Gagnon, J., Chagnon, Y. C., Leon, A. S., Skinner, J. S., Wilmore, J. H., Rao, D. C. & Bouchard, C. (2000) Angiotensin-converting enzyme ID polymorphism and fitness phenotype in the HERITAGE Family Study. J Appl Physiol 88, 1029-1035.
36. Reiner, A. P., Siscovick, D. S. & Rosendaal, F. R. (2001) Hemostatic risk factors and arterial thrombotic disease. Thromb Haemost 85, 584-595.
37. Rigat, B., Hubert, C., Alhenc-Gelas, F., Cambien, F., Corvol, P. & Soubrier, F. (1990) An insertion/deletion in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 86, 1343-1346.
38. Ruiz, L. & Peñaloza, D. (1977) Altitude and hypertension. Mayo Clin Proc 52, 442-445.
39. Rupert, J. L. (2000) Genetic variation and adaptation in the Quechua, a high altitude native population Vancouver: Ph.D. thesis, University of British Columbia.
40. Rupert, J. L., Devine, D. V., Monsalve, M. V. & Hochachka, P. W. (1999a) Angiotensin-converting enzyme (ACE) alleles in the Quechua, a high altitude South American native population. Ann Hum Biol 26, 375-380.
41. Rupert, J. L., Devine, D. V., Monsalve, M. V. & Hochachka, P. W. (1999b) β-fibrinogen allele frequencies in Peruvian Quechua, a high-altitude native population. Am J Phys Anthropol 109, 181-186.
42. Rupert, J. L. & Hochachka, P. W. (2001) The evidence for hereditary factors contributing to high altitude adaptation in Andean natives: a review. High Alt Med Biol 2, 235-256.
43. Russ, A. P., Maerz, W., Ruzicka, V., Stein, U. & Gross, W. (1993) Rapid detection of the hypertension-associated Met235→ Thr allele of the human angiotensinogen gene. Hum Mol Genet 2, 609-610.
44. Schunkert, H. (1997) Polymorphism of the angiotensin-converting enzyme gene and cardiovascular disease. J Mol Gen 75, 867-875.
45. Simmons, D. (1983) Blood pressure, ethnic group, and salt intake in Belize. J Epidemiol Community Health 37, 38-42.
46. Stockins, B., Larenas, G., Charles, M., Standen, D., Espinoza, O., Illesca, M., Opazo, J. A., Carrasco, B., Lanas, F. & Davis, M. (1998) Serum lipids and blood pressure levels in the Mapuche population living in the Chilean region of Araucania. Rev Med Chil 126, 1291-1299.
47. Szombathy, T., Szalai, C., Katalin, B., Palicz, T., Romics, L. & Császár, A. (1998) Association of angiotensin II type 1 receptor polymorphism with resistant essential hypertension. Clinica Chimica Acta 269, 91-100.
48. Taylor, R. R., Mamotte, C. D., Fallon, K. & van Bockxmeer, F. M. (1999) Elite athletes and the gene for angiotensin-converting enzyme. J Appl Physiol 87, 1035-1037.
49. Tiret, L., Bonnardeaux, A., Poirier, O., Ricard, S., Marques-Vidal, P., Evans, A., Arveiler, D., Luc, G., Kee, F., Ducimetiere, P., Soubrier, F. & Cambien, F. (1994) Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction. Lancet 344, 910-913.
50. van Geel, P. P., Pinto, Y. M., Zwinderman, A. H., Henning, R. H., van Boven, A. J., Jukema, J. W., Bruschke, A. V. G., Kastelein, J. J. P. & van Gilst, W. H. on behalf of the REGRESS Study Group (2001) Increased risk for ischaemic events is related to combined RAS polymorphism. Heart 85, 458-462.
51. Wang, W. Y. S., Zee, R. Y. L. & Morris, B. J. (1997) Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension. Clin Genet 51, 31-34.
52. Ward, M. P., Milledge, J. S. & West, J. B. (2000) High altitude medicine and physiology. 3rd edn. London: Arnold.
53. Watt, E. W., Picon-Reategui, E., Gahagan, H. E. & Buskirk, E. R. (1976) Dietary intake and coronary risk factors in Peruvian Quechua Indians. J Am Diet Assoc 68, 535-537.
54. Way, A. B. (1976) Morbidity and postneonatal mortality. In Man in the Andes (eds. P. T. Baker & M. A. Little), pp. 147-160. Stroudsburg, Pennsylvania: Dowden, Huchinson and Ross, Inc.
55. Winslow, R. M. & Monge, C. (1987) Hypoxia, polycythemia, and chronic mountain sickness. Baltimore: John Hopkins University Press.
56. Yusuf, S., Reddy, S., Ounpuu, S. & Anand, S. (2001) Global burden of cardiovascular diseases: part I: general considerations, the epidemiologic transition, risk factors, and impact of urbanization. Circulation 104, 2746-2753.
57. Zhu, X., Bouzekri, N., Southam, L., Cooper, R. S., Adeyemo, A., McKenzie, C. A., Luke, A., Chen, G., Elston, R. C. & Ward, R. (2001) Linkage and association analysis of angiotensin I-converting enzyme (ACE)-gene polymorphisms with ACE concentration and blood pressure. Am J Hum Genet 68, 1139-1148.