Abstract
Predispositions to essential hypertension and cardiovascular diseases are possibly associated with gene polymorphisms of the renin–angiotensin system. Gene polymorphisms of angiotensinogen and angiotensin-converting enzyme genes have been suggested to be risk factors for hypertension and myocardial infarction. Concerning the polymorphism of aldosterone synthase (CYP11B2) gene, earlier studies have shown inconsistent results in terms of its relation to hypertension. In the present case–control study, we investigated the association of −344T/C polymorphism in the promoter region of human CYP11B2 gene with genetic predisposition to hypertension. The genotype of −344T/C polymorphism was determined in essential hypertension subjects (n=250) and normotensive subjects (n=221). The distributions of three genotypes (TT, TC, and CC) were significantly different between the hypertensive and the normotensive groups (χ2=9.61, P=0.008). Namely, the frequency of C allele was higher in the hypertensive patients than in the normotensive subjects (34.2 vs 26.5%, P=0.010). Our data suggest that the −344C allele of CYP11B2 gene polymorphism is associated with the genetic predisposition to develop essential hypertension.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 digital issues and online access to articles
$119.00 per year
only $9.92 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
White PC . Disorders of aldosterone biosynthesis and action N Engl J Med 1994 331: 250–258
Kawamoto T et al. Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans Proc Natl Acad Sci USA 1992 89: 1458–1462
Curnow KM et al. The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex Mol Endocrinol 1991 5: 1513–1522
White PC, Slutsker L . Haplotype analysis of CYP11B2 Endocr Res 1995 21: 437–442
Fardella CE et al. Genetic variation in P450c11AS in Chilean patients with low renin hypertension J Clin Endocrinol Metab 1996 81: 4347–4351
White PC, Hautanen A, Kupari M . Aldosterone synthase (CYP11B2) polymorphisms and cardiovascular function J Steroid Biochem Mol Biol 1999 69: 409–412
Joint National Committee on prevention, detection, evaluation, and treatment of high blood pressure. The sixth report of the Joint National Committee on prevention, detection, evaluation, and treatment of high blood pressure Arch Intern Med 1997 157: 2413–2446
Guidelines Subcommittee: 1999 World Health Organization–International Society of Hypertension Guidelines for the Management of Hypertension. Guidelines Subcommittee J Hypertens 1999 17: 151–183
Komiya I et al. Lys(173)Arg and −344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension Hypertension 2000 35: 699–703
Kupari M et al. Associations between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass, and function Circulation 1998 97: 569–575
Hautanena A et al. Associations between aldosterone synthase gene polymorphism and the adrenocortical function in males J Intern Med 1998 244: 11–18
Ylitalo A et al. Baroreflex sensitivity and variants of the renin angiotensin system genes J Am Col Cardiol 2000 35: 194–200
Brand E et al. Structural analysis and evaluation of the aldosterone synthase gene in hypertension Hypertension 1998 32: 198–204
Hautanen A et al. Joint effects of an aldosterone synthase (CYP11B2) gene polymorphism and classic risk factors on risk of myocardial infarction Circulation 1999 100: 2213–2218
Patel S, Steeds R, Channer K, Samani NJ . Analysis of promoter region polymorphism in the aldosterone synthase gene (CYP11B2) as a risk factor for myocardial infarction Am J Hypertens 2000 13: 134–139
Hengstenberg C et al. Evaluation of the aldosterone synthase (CYP11B2) gene polymorphism in patients with myocardial infarction Hypertension 2000 35: 704–709
Tsujita Y et al. Lack of association between genetic polymorphism of CYP11B2 and hypertension in Japanese: the Suita Study Hypertens Res 2001 24: 105–109
Kato N et al. Comprehensive analysis of the renin–angiotensin gene polymorphisms with relation to hypertension in the Japanese J Hypertens 2000 18: 1025–1032
Poch E et al. Molecular basis of salt sensitivity in human hypertension. Evaluation of renin–angiotensin–aldosterone system gene polymorphisms Hypertension 2001 38: 1204–1209
Matsubara M et al. Aldosterone synthase gene (CYP11B2) C-334T polymorphism, ambulatory blood pressure and nocturnal decline in blood pressure in the general Japanese population: the Ohasama Study J Hypertens 2001 19: 2179–2184
Pojoga L et al. Genetic determination of plasma aldosterone levels in essential hypertension Am J Hypertens 1998 11: 856–860
Brand E et al. Aldosterone synthase gene (CYP11B2) C-344T polymorphism in Caucasians from the Berlin Salt-Sensitivity Trial (BeSST) J Hypertens 1999 17: 1563–1567
Davies E et al. Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2 Hypertension 1999 33: 703–707
Acknowledgements
We thank Ms Yasuko Kawamura, Ms Mika Nomura, Ms Jun Chou, Ms. Masako Minato, Ms Machiko Sakata and Ms Yasuko Mamada for technological assistance in executing the study. This study was supported in part by a grant-in-aid for scientific research (10218209) from the Ministry of Education, Science and Culture of Japan.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Tsukada, K., Ishimitsu, T., Teranishi, M. et al. Positive association of CYP11B2 gene polymorphism with genetic predisposition to essential hypertension. J Hum Hypertens 16, 789–793 (2002). https://doi.org/10.1038/sj.jhh.1001484
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.jhh.1001484
Keywords
This article is cited by
-
Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population
Scientific Reports (2020)
-
Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families
Endocrine (2018)
-
Aldosterone synthase C-344T, angiotensin II type 1 receptor A1166C and 11-β hydroxysteroid dehydrogenase G534A gene polymorphisms and essential hypertension in the population of Odisha, India
Journal of Genetics (2014)
-
Association of the K173R variant and haplotypes in the aldosterone synthase gene with essential hypertension
Genes & Genomics (2014)
-
Distribution and phenotypic expression of mineralocorticoid receptor and CYP11B2 T-344C polymorphisms in a Taiwanese hypertensive population
Molecular Biology Reports (2013)