medigraphic.com

2003, Number 4

<< Back Next >>

Rev Med Hosp Gen Mex 2003; 66 (4)

Genetic aspects of the arterial hypertension

Carlos ZJ, Kofman-Alfaro S

Language: Spanish
References: 53
Page: 218-223
PDF size: 93.06 Kb.


ABSTRACT

Hypertension is a frequent, chronic, age-related disorder, affecting about 25% of the population in industrialized societies and which often entails debilitating cardiovascular and renal complications. Despite the important role of hypertension as a cause of disease, its pathogenesis remains largely unknown. The application of genetic approaches to rare monogenic (Mendelian) forms of hypertension and hypotension has begun to delineate molecular pathways underlying human blood pressure variation, defining disease pathogenesis and identifying targets for therapeutic intervention. In all cases the pathophysiology is altered net renal salt reabsorption. However the most prevalent form of hypertension is primary or essential hypertension that arises as a complex quantitative trait that is affected by varying combinations of genetic and environmental factors. We reviewed epidemiological and genetic data currently available as well as modern approaches to investigation of hypertension genetics.


REFERENCES

  1. Mosterd A, D’Agostino RB, Silbershatz H, Sytowsky PA, Kannel WB et al. Trends in the prevalence of hypertension, antihypertensive therapy, and left ventricular hypertrophy from 1950 to 1989. N engl J Med 1999; 340:1221-1226.

  2. Gharavi A, Lifton RP. The inherited basis of blood pressure variation and hypertension. In: The metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill, 2001; 5399-5417.

  3. Crook ED. The genetics of human hypertension. Semin Nephrol 2002; 22: 27-34.

  4. Rodriguez BL, Labarthe DR, Huang B, Lopez-Gomez J. Rise of blood pressure with age. New evidence of population differences. Hypertension 1994; 24: 779-782.

  5. Elliot P, Stamler J, Nichols R, Dyer AR, Stamler R et al. Intersalt revisited: Further analyses of 24-hour sodium excretion and blood pressure within and across populations. Intersalt Cooperative Research Group. BMJ 1996; 312; 1249-1253.

  6. James GD, Baker PT. Human population biology and blood pressure: evolutionary and ecological considerations and interpretations of population studies. In: Laragh JH, Brenner BM (eds). Hypertension: Pathophysiology, diagnosis and management. 2a ed. New York: Raven, 1995; 115.

  7. Burt VL, Whelton P, Roccella EJ, Brown C, Cutler JA et al. Prevalence of hypertension in the US adult population. Results from the Third National Health and Nutrition Examination Survey, 1988-1991. Hypertension 1995; 25: 305-313.

  8. McGee D, Cooper R, Liao Y, Durazo-Arvizu R. Patterns of comorbidity and mortality risk in blacks and whites. Ann Epidemiol 1996; 6: 381-385.

  9. Must A, Spadano J, Coakley EH, Field AE, Colditz G et al. The disease burden associated with overweigth and obesity. JAMA 1999; 282:1523-1529.

  10. Huang Z, Willet WC, Manson JE, Rosner B, Stampfer MJ et al. Body weight, weight change, and risk for hypertension in women. Ann Intern Med 1998; 128: 81-88.

  11. Sherman SE, D’Agostino RB, Silbershatz H, Kannel WB. Comparison of past versus recent physical activity in the prevention of premature death and coronary artery disease. Am Heart J 1999; 138: 900-907.

  12. Reaven GM, Lithell H, Landsberg L. Hypertension and associated metabolic abnormalities-The role of insulin resistance and the sympathoadrenal system. N Engl J Med 1996; 334: 374-381.

  13. Hollenberg NK, Martinez G, McCullough M, Meinking T, Passan D et al. Aging, acculturation, salt intake, and hypertension in the Kuna of Panama. Hypertension 1997; 29: 171-176.

  14. Denton D, Weisinberg R, Mundy NI, Wickings EJ, Dixson A et al. The effect of increased salt intake on blood pressure of chimpanzees. Nat Med 1995; 10: 1009-10016.

  15. Barlassina C, Lanzani C, Manunta P, Bianchi G. Genetics of essential hypertension: from families to genes. J Am Soc Nephrol 2002; 13: S155-164.

  16. McInhai ML, Shaffer JW, Hines EA: The heritability of blood pressure. An investigation of 200 twin pairs using the cold pressure test. J Hopkins Med J 1975; 136: 57-74.

  17. Mongeau JG. Heredity and blood pressure. Semin Nephrol 1989; 9: 208-216.

  18. Turner ST, Boerwinkle E. Genetics of blood pressure, hypertensive complications, and hypertensive drug responses. Pharmacogenomics 2003; 4: 53-65.

  19. Miura DS. Genetic factors in human hypertension. Curr Opin Nephrol Hypertens 1997; 6: 215-218.

  20. Poch E, González D, Giner V, Brauglat E, Coca A et al. Molecular basis of salt sensitivity in human hypertension. Evaluation of renin-angiotensin-aldosterone system gene polymorphisms. Hypertension 2001; 38: 1204-1209.

  21. Kato N. Genetic analysis in human hypertension. Hypertens Res 2002; 25: 319-327.

  22. Lifton RP. Molecular genetics of human blood pressure variation. Science 1996; 272: 676-680.

  23. Luft FC. Molecular genetics of salt-sensitivity and hypertension. Drug Metab Dispos 2001; 29: 500-504.

  24. Gavras I, Manolis A, Gavras H. Genetic epidemiology of essential hypertension. J Hum Hypertens 1999; 13: 225-229.

  25. O’Donnell CJ, Lindpaintner K, Larson MG, Rao VS, Ordovas JM et al. Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framinghman Heart Study. Circulation 1998; 97: 1766-1772.

  26. Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P et al. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 1990; 86: 1343-1346.

  27. Schunkert H, Hense HW, Holmer SR, Stender M, Perz S, Keil U, Lorell B, Riegges GAJ. Association between angiotensin converting enzyme gene polymorphism and left ventricular hypertrophy. N Engl J Med 1994; 330: 1634-1638

  28. Soubrier F. Blood pressure gene at the angiotensin I-converting enzyme locus: chronicle of a gene foretold. Circulation 1998; 97: 1763-1765.

  29. Cambien F, Poirier O, Lecerf L, Evans A, Cambou JP et al. Deletion polymorphism of the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992; 359: 641-644.

  30. Jacobsen P, Rossing K, Rossing P. Angiotensin converting enzyme gene polymorphism and ACE inhibition in diabetic nephropathy. Kidney Int 1998; 53: 1002-1006.

  31. Jeunemaitre X, Soubrier F, Kotelevtsev YV, Lifton RP, Williams CS et al. Molecular basis of human hypertension: Role of angiotensinogen. Cell 1992; 71: 169-180.

  32. Caufield M, Lavende P, Farrall M, Munroe P. Linkage of the angiotensinogen gene to essential hypertension. N Engl J Med 1994; 330: 1629-1633.

  33. Atwood LD, Kammerer CM, Samollow PB, Hixson JE, Shade RE et al. Linkage of essential hypertension to the angiotensinogen locus in Mexican Americans. Hypertension 1997; 30: 326-330.

  34. Kunz R, Kreutz R, Beige J, Distler A, Sharma AM. Association between the angiotensinogen 235T-variant and essential hypertension in whites: A systematic review and methodological appraisal. Hypertension 1997; 30: 1331-1337.

  35. Inoue I, Nakajima T, Williams CS, Quackenbush J, Puryear R et al. A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription. J Clin Invest 1997; 99: 1786-1797.

  36. Jeunemaitre X, Inoue I, Williams C, Charru A, Tichet J et al. Haplotypes of angiotensinogen in essential hypertension. Am J Hum Genet 1997; 60: 1448-1460.

  37. Corvol P, Persu A, Gimenez-Roqueplo AP, Jeunemaitre X. Seven lessons from two candidate genes in human essential hypertension: Angiotensinogen and epithelial sodium channel. Hypertension 1999; 33: 1324-1331.

  38. Cusi D, Barlassina C, Azzani T, Casari G, Citterio L et al. Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet 1997; 349: 1353-1357.

  39. Manunta P, Cusi D, Barlassina C, Righette M, Lanzani C et al. Alpha-adducin polymorphisms and renal sodium handling in essential hypertensive patients. Kidney Int 1998; 53: 1471-1478.

  40. Kato N, Sugiyama T, Nabika T, Morita H, Kurihara H et al. Lack of association between the a-adducin locus and essential hypertension in the Japanese population. Hypertension 1998; 31: 730-733.

  41. Kotanko P, Binder A, Tasker J, DeFreitas P, Kamdar S et al. Essential hypertension in African Caribbeans associates with a variant of the b2-adrenoceptor. Hypertension 1997; 30:1331-1337.

  42. Timmermann B, Mo R, Luft FC, Gerdts E, Busjahn A et al. b-2 adrenoceptor genetic variation is associated with genetic propensity to essential hypertension: The Bergen Blood Pressure Study. Kidney Int 1998; 53: 1455-1460.

  43. Xu X, Rogus JJ, Terwedow HA. An extreme-sib-pair genome scan for genes regulating blood pressure. Am J Hum Genet 1999; 64: 1649-1701.

  44. Siffert W, Rosskopf D, Siffert G, Busch S, Moritz A et al. Association of a human G-protein beta-3 subunit variant with hypertension. Nat Genet 1998; 18: 45-48.

  45. Siffert W. G proteins and hypertension: An alternative candidate gene approach. Kidney Int 1998; 53: 1466-1470.

  46. Schunkert H, Hense HW, Doring A, Riegger GA, Siffert W. Association between a polymorphism in the G protein b3 subunit gene and lower renin and elevated diastolic blood pressure levels. Hypertension 1998; 32: 510-513.

  47. Su YR, Rutkowsky MP, Klanke CA, Wu X, Cui Y et al. A novel variant of the b-subunit of the amiloride-sensitive sodium channel in African Americans. J Am Soc Nephrol 1996; 7: 2543-2549.

  48. Baker EH, Dong YB, Sagnella GA, Rothwell M, Onipinia AK et al. Association of hypertension with T594M mutation in b subunit of epithelial sodium channels in black people resident in London. Lancet 1998; 351: 1388-1392.

  49. Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell 2001; 104: 545-556.

  50. Johnson RJ, Kivlighn SD, Kim YG, Suga S, Fogo AB. Reappraisal of the pathogenesis and consequences of hyperuricemia in hypertension, cardiovascular disease, and renal disease. Am J Kidney Dis 1999; 33: 225–234.

  51. Mazzali M, Hughes J, Kim Y-G. Elevated uric acid increases blood pressure in the rat by a novel crystal-independent mechanism. Hypertension 2001; 38: 1101–1106.

  52. Watanabe S, Kang DH, Feng L, Nakagawa T, Kanellis J. Uric acid, hominoid evolution, and the pathogenesis of salt-sensitivity. Hypertension 2002; 40: 355-360.

  53. Oda M, Satta Y, Takenaka O, Takahata N. Loss of urate oxidase activity in hominoids and its evolutionary implications. Mol Biol Evol 2002; 19: 640-653.




2020     |     www.medigraphic.com