Abstract
Over the past 20 years, the interest of the scientific community was increasingly placed in the field of genetic epidemiology and molecular genetics of blood pressure control. This paper explores references related to essential hypertension, gene and genetic epidemiology indexed in the MedLine health science database during the period 1980–2001. A systematic literature search was performed using selected keywords, such as 'genetic', 'genome' or a combination of words. We considered the study heading and evaluated the time profile of published articles. A total number of 3116 publications was collected and analyzed. Allelic distribution for the most studied polymorphisms of the renin–angiotensin system in different world populations was reviewed and reported together with a detection of their frequency in Italy: essential hypertensive patients (n = 90), healthy unrelated subjects (n = 300). Molecular variants at angiotensinogen (M and T), angiotensin II type 1 receptor (A and C) and angiotensin-converting enzyme (D and I) genes were analyzed by amplified fragment length polymorphism. A significant association was detected by χ2 analysis for angiotensinogen and angiotensin II-type I receptor allele distribution in hypertensive patients, in accordance with previous reports. Genetic data and methods are contributing more and more to epidemiological studies of complex diseases, and their application is influenced by information availability and Genome Project results.
Similar content being viewed by others
References
O'Brien E, Staessen JA. What is 'hypertension'? Lancet 1999; 353(9164): 1541–1543.
The sixth report of the Joint National Committee on Prevention, Detection, Evaluation and Treatment of High Blood Pressure. Arch Int Med 1997; 157(21): 2413–2446.
Khattar RS, Swales JD, Senior R, Lahiri A. Racial variation in cardiovascular morbidity and mortality in essential hypertension. Heart 2000; 83(3): 267–271.
Ward R. Familial aggregation in genetic epidemiology of blood pressure. In: Laragh J, Brenner B (eds), Hypertension: Pathophysiology, Diagnosis and Management. New York, NY: Raven Press Publications, 1995; 67–86.
Alexander M, Tekawa I, Hunkeler E, et al. Evaluating hypertension control in a managed care setting. Arch Int Med 1999; 159(22): 2673–2677.
Hyman D, Pavlik V. Self-reported hypertension treatment practices among primary care physicians: Blood pressure thresholds, drug choices and the role of guidelines and evidence-based medicine. Arch Int Med 2000; 160(15): 2281–2286.
Pardell H, Tresseras R, Armario P, Hernandez del Rey R. Pharmacoeconomic considerations in the management of hypertension. Drugs 2000; 59(Suppl. 2): 13–20.
World Hypertension League. Economics of hypertension control. Bull WHO 1995; 73(4): 417–424.
Ambrosioni E, Costa FV. Cost-effectiveness calculations from trials. J Hypertens 1996; 14(Suppl. 2): S47–S54.
Jönsson B, Johannesson M. Cost benefit of treating hypertension. Clin Exp Hypertens 1999; 21(5-6): 987–997.
Ménard J. Cost-effectiveness of hypertension treatment. Clin Exp Hypertens 1996; 18(3-4): 399–413.
Staessen JA, Wang JG, Thij L. Cardiovascular protection and blood pressure reduction: A meta-analysis. Lancet 2001; 358(9290): 1305–1315.
Vinck WJ, Fagard RH, Loos R, Vlietinck R. The impact of genetic and environmental influences on blood pressure variance across age-groups. J Hypertens 2001; 19(6): 1007–1013.
Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell 2001; 104(4): 545–556.
Sacks FM, Svetkey LP, Vollmer WM, et al. Effects on blood pressure of reduced dietary sodium and the dietary approaches to stop hypertension (DASH) diet. DASH-Sodium Collaborative Research Group. N Engl J Med 2001; 344(1): 3–10.
Rice T, Rao R, Perusse L, Bouchard C, Rao DC. Tracking of familial resemblance for resting blood pressure over time in the Quebec Family Study. Hum Biol 2000; 72(3): 415–431.
O'shaughnessy KM. The genetics of essential hypertension. Br J Clin Pharmacol 2001; 51(1): 5–11.
Timberlake DS, O'Connor DT, Parmer RJ. Molecular genetics of essential hypertension: Recent results and emerging strategies. Curr Opin Nephrol Hypertens 2001; 10(1): 71–79.
Allikmets K, Parik T, Viigimaa M. The renin-angiotensin system in essential hypertension: Associations with cardiovascular risk. Blood Press 1999; 8(2): 70–78.
Jeunemaitre X, Soubrier F, Kotelevtsev YV, et al. Molecular basis of human hypertension: Role of angiotensinogen. Cell 1992; 71(1): 169–180.
Bonnardeaux A, Davies E, Jeunemaitre X, et al. Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension 1994; 24(1): 63–69.
O'Donnell CJ, Lindpaintner K, Larson MG. Evidence for association and genetic linkage of the angiotensinconverting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. Circulation 1998; 97(18): 1766–1772.
WHO Guidelines Subcommittee. 1999 World Health Organisation-International Society of Hypertension guidelines for the management of hypertension. J Hypertens 1999; 17(2): 151–183.
Mettimano M, Ianni A, Migneco A, Specchia ML, Romano-Spica V, Savi L. Angiotensin-related genes involved in essential hypertension: Allelic distribution in an Italian population sample. It Heart J 2001; 2(8): 589–593.
Moore D. Preparation and analysis of DNA. In: Ausubel FM, Brent R, Kingston RE, et al. (eds), Current Protocols in Molecular Biology. New York, NY: John Wiley & Sons, Inc., 1998; 2.0.1–2.1.10.
Berge KE, Berg K. Polymorphisms at the angiotensinogen (AGT) and angiotensin II type 1 receptor (AT1R) loci and normal blood pressure. Clin Genet 1998; 53(3): 214–219.
Fatini C, Abbate R, Pepe G, et al. 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 2000; 21(8): 633–638.
Wang JG, Staessen JA. Genetic polymorphisms in the renin-angiotensin system: Relevance for susceptibility to cardiovascular disease. Eur J Pharmacol 2000; 410(2-3): 289–302.
Pontremoli R, Ravera M, Viazzi F, et al. Genetic polymorphism of the renin-angiotensin system and organ damage in essential hypertension. Kidney Int 2000; 57(2): 562–569.
Caulfield M, Lavender P, Farrall M, et al. Linkage of the angiotensinogen gene to essential hypertension. N Engl J Med 1994; 330(23): 1629–1633.
Rotimi C, Morrison L, Cooper R, et al. Angiotensinogen gene in human hypertension: Lack of an association of the 235T allele among African Americans. Hypertension 1994; 24(5): 591–594.
Staessen JA, Ginocchio G, Wang JG, et al. Genetic variability in the renin-angiotensin system: Prevalence of alleles and genotypes. J Cardiovasc Risk 1997; 4(5-6): 401–422.
Thomas GN, Young RP, Tomlinson B, Woo KS, Sanderson JE, Critchley JAJH. Renin-angiotensin-aldosterone system gene polymorphisms and hypertension in Hong Kong Chinese. Clin Exp Hypertens 2000; 22(1): 87–97.
Jeng JR. Left ventricular mass, carotid wall thickness and angiotensinogen gene polymorphism in patients with hypertension. Am J Hypertens 1999; 12(5): 443–450.
Duncan JA, Scholey JW, Miller JA. Angiotensin II type 1 receptor gene polymorphisms in humans: Physiology and pathophysiology of the genotypes. Curr Opin Nephrol Hypertens 2001; 10(1): 111–116.
Gainer JV, Hunley TE, Kon V, Nadeau JH, Muldowney JAS, Brown NJ. Angiotensin II type 1 receptor polymorphism in African Americans: Lower frequency of the C1166 variant. Biochem Mol Biol Int 1997; 43(1): 227–231.
Kato N, Sugiyama T, Morita H, et al. Comprehensive analysis of the renin-angiotensin gene polymorphisms with relation to hypertension in the Japanese. J Hypertens 2000; 18(8): 1025–1032.
Kiema T-R, Kauma H, Rantala AO, et al. Variation at the angiotensin-converting enzyme gene and angiotensinogen gene loci in relation to blood pressure. Hypertension 1996; 28(6): 1070–1075.
Bloem LJ, Manatunga AK, Pratt H. Racial difference in the relationship of an angiotensin I-converting enzyme gene polymorphism to serum angiotensin I-converting enzyme activity. Hypertension 1996; 27(1): 62–66.
Rotimi C, Puras A, Cooper R, et al. Polymorphisms of renin-angiotensin genes among Nigerians, Jamaicans and African Americans. Hypertension 1996; 27(3Pt2): 558–563.
Jeng JR. Carotid thickening, cardiac hypertrophy and angiotensin converting enzyme gene polymorphism in patients with hypertension. Am J Hypertens 2000; 13(1Pt1): 111–119.
Gavras I, Manolis A, Gavras H. Genetic epidemiology of essential hypertension. J Hum Hypertens 1999; 13(4): 225–229.
Sharma P, Fatibene J, Ferraro F, et al. A genome-wide search for susceptibility loci to human essential hypertension. Hypertension 2000; 35(6): 1291–1296.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Romano-Spica, V., Mettimano, M., Ianni, A. et al. Epidemiology of essential hypertension: The role of genetic polymorphism. Eur J Epidemiol 18, 211–219 (2003). https://doi.org/10.1023/A:1023360410810
Issue Date:
DOI: https://doi.org/10.1023/A:1023360410810