Abstract
Original language | Undefined/Unknown |
---|---|
Title of host publication | Endocrine Development |
Subtitle of host publication | Pediatric Adrenal Disease |
Editors | L. Ghizzoni, M. Cappa, G. Chrousos, S. Loche, M. Maghnie |
Place of Publication | Basel |
Publisher | Karger |
Pages | 106-115 |
Number of pages | 10 |
Volume | 20 |
ISBN (Electronic) | 9783805596442 |
ISBN (Print) | 9783805596435 |
DOIs | |
Publication status | Published - 2011 |
Publication series
Name | Endocrine Development |
---|---|
Publisher | Karger |
Volume | 20 |
ISSN (Print) | 1421-7082 |
ISSN (Electronic) | 1662-2979 |
Keywords
- aldosterone
- aldosterone synthase
- cytochrome P 450 CYP11B1
- cytochrome P450
- synthetic DNA
- unclassified drug
- aldosterone synthesis
- article
- cardiovascular disease
- cardiovascular risk
- gene expression regulation
- gene locus
- genetic polymorphism
- genetic variability
- human
- hypertension
- nonhuman
- population genetics
- primary hyperaldosteronism
- priority journal
- steroidogenesis
- Aldosterone
- Aldosterone Synthase
- Animals
- Cardiovascular Diseases
- Genetic Variation
- Humans
- Hypertension
- Linkage Disequilibrium
- Models, Biological
- Polymorphism, Single Nucleotide
- Steroid 11-beta-Hydroxylase
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Endocrine Development: Pediatric Adrenal Disease. ed. / L. Ghizzoni; M. Cappa; G. Chrousos; S. Loche; M. Maghnie. Vol. 20 Basel: Karger, 2011. p. 106-115 (Endocrine Development; Vol. 20).
Research output: Chapter in Book/Report/Conference proceeding › Chapter
TY - CHAP
T1 - Role of genetic variation in regulation of aldosterone biosynthesis
AU - Alvarez-Madrazo, S.
AU - Connell, J. M.
AU - Freel, E. Marie
N1 - Export Date: 19 March 2012 Source: Scopus doi: 10.1159/000321229 PubMed ID: 21164264 Language of Original Document: English Correspondence Address: Freel, E. M.; BHF Glasgow Cardiovascular Research Centre, University of Glasgow, 126 University Place, Glasgow G12 8TA, United Kingdom; email: [email protected] Chemicals/CAS: aldosterone, 52-39-1, 6251-69-0; aldosterone synthase, 122933-89-5; cytochrome P450, 9035-51-2; Aldosterone, 52-39-1; Aldosterone Synthase, 1.14.15.4; Steroid 11-beta-Hydroxylase, 1.14.15.4 References: Conn, J.W., Primary aldosteronism: A new clinical syndrome (1955) J Lab Clin Med, 45, pp. 3-17; Gaddam, K.K., Pimenta, E., Husain, S., Calhoun, D.A., Aldosterone and cardiovascular disease (2009) Curr Probl Cardiol, 34, pp. 51-84; Milliez, P., Girerd, X., Plouin, P.F., Blacher, J., Safar, M.E., Mourad, J.J., Evidence for an increased rate of cardiovascular events in patients with primary aldosteronism (2005) J Am Coll Cardiol, 45, pp. 1243-1248; Brilla, C.G., Weber, K.T., Mineralocorticoid excess, dietary sodium, and myocardial fibrosis (1992) J Lab Clin Med, 120, pp. 893-901; Pimenta, E., Gaddam, K.K., Pratt-Ubunama, M.N., Nishizaka, M.K., Aban, I., Oparil, S., Calhoun, D.A., Relation of dietary salt and aldosterone to urinary protein excretion in subjects with resistant hypertension (2008) Hypertension, 51, pp. 339-344; Vasan, R.S., Evans, J.C., Larson, M.G., Wilson, P.W., Meigs, J.B., Rifai, N., Benjamin, E.J., Levy, D., Serum aldosterone and the incidence of hypertension in nonhypertensive persons (2004) N Engl J Med, 351, pp. 33-41; Reynolds, R.M., Walker, B.R., Phillips, D.I., Dennison, E.M., Fraser, R., MacKenzie, S.M., Davies, E., Connell, J.M., Programming of hypertension: Associations of plasma aldosterone in adult men and women with birthweight, cortisol, and blood pressure (2009) Hypertension, 53, pp. 932-936; Connell, J.M., MacKenzie, S.M., Freel, E.M., Fraser, R., Davies, E., A lifetime of aldosterone excess: Longterm consequences of altered regulation of aldosterone production for cardiovascular function (2008) Endocr Rev, 29, pp. 133-154; Makhanova, N., Hagaman, J., Kim, H.S., Smithies, O., Salt-sensitive blood pressure in mice with increased expression of aldosterone synthase (2008) Hypertension, 51, pp. 134-140; Mornet, E., Dupont, J., Vitek, A., White, P.C., Characterization of two genes encoding human steroid 11ß-hydroxylase (P-450(11)ß) (1989) J Biol Chem, 264, pp. 20961-20967; Davies, E., Holloway, C.D., Ingram, M.C., Inglis, G.C., Friel, E.C., Morrison, C., Anderson, N.H., Connell, J.M., Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2 (1999) Hypertension, 33, pp. 703-707; Paillard, F., Chansel, D., Brand, E., Benetos, A., Thomas, F., Czekalski, S., Ardaillou, R., Soubrier, F., Genotypephenotype relationships for the renin-angiotensinaldosterone system in a normal population (1999) Hypertension, 34, pp. 423-429; Alvarez-Madrazo, S., Padmanabhan, S., Mayosi, B.M., Watkins, H., Avery, P., Wallace, A.M., Fraser, R., Connell, J.M., Familial and phenotypic associations of the aldosterone renin ratio (2009) J Clin Endocrinol Metab, 94, pp. 4324-4333; Bassett, M.H., Zhang, Y., Clyne, C., White, P.C., Rainey, W.E., Differential regulation of aldosterone synthase and 11ß-hydroxylase transcription by steroidogenic factor-1 (2002) J Mol Endocrinol, 28, pp. 125-135; Levy, D., Ehret, G.B., Rice, K., Verwoert, G.C., Launer, L.J., Deghan, A., Genome-wide association study of blood pressure and hypertension (2009) Nat Genet, 41, pp. 677-687; Newton-Cheh, C., Johnson, T., Gateva, V., Tobin, M., Bochud, M., Coin, L., Genome-wide association study identifies eight loci associated with blood pressure (2009) Nat Genet, 41, pp. 666-676; Davies, E., Holloway, C.D., Ingram, M.C., Friel, E.C., Inglis, G.C., Swan, L., Hillis, W.S., Connell, J.M., An influence of variation in the aldosterone synthase gene (CYP11B2) on corticosteroid responses to ACTH in normal human subjects (2001) Clin Endocrinol (Oxf), 54, pp. 813-817; Ganapathipillai, S., Laval, G., Hoffmann, I.S., Castejon, A.M., Nicod, J., Dick, B., Frey, F.J., Ferrari, P., CYP11B2-CYP11B1 haplotypes associated with decreased 11ß-hydroxylase activity (2005) J Clin Endocrinol Metab, 90, pp. 1220-1225; Keavney, B., Mayosi, B., Gaukrodger, N., Imrie, H., Baker, M., Fraser, R., Ingram, M., Connell, J.M., Genetic variation at the locus encompassing 11ß-hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion (2005) J Clin Endocrinol Metab, 90, pp. 1072-1077; Barr, M., MacKenzie, S.M., Friel, E.C., Holloway, C.D., Wilkinson, D.M., Brain, N.J., Ingram, M.C., Davies, E., Polymorphic variation in the 11ß-hydroxylase gene associates with reduced 11-hydroxylase efficiency (2007) Hypertension, 49, pp. 113-119; MacKenzie, S., Stewart, P.M., Plouin, P.F., Fraser, R., Connell, J.M., Davies, E., Differential transcription of 11ß-hydroxylase and aldosterone synthase in human adrenocortical tissue (2009) Endocr Abstr, 19, pp. P302; Lim, P.O., MacDonald, T.M., Holloway, C., Friel, E., Anderson, N.H., Dow, E., Jung, R.T., Connell, J.M., Variation at the aldosterone synthase (CYP11B2) locus contributes to hypertension in subjects with a raised aldosterone-to-renin ratio (2002) J Clin Endocrinol Metabolism, 87, pp. 4398-4402; Pojoga, L., Gautier, S., Blanc, H., Guyene, T.T., Poirier, O., Cambien, F., Benetos, A., Genetic determination of plasma aldosterone levels in essential hypertension (1998) Am J Hypertens, 11, pp. 856-860; Sookoian, S., Gianotti, T.F., Gonzalez, C.D., Pirola, C.J., Association of the C-344T aldosterone synthase gene variant with essential hypertension: A metaanalysis (2007) J Hypertens, 25, pp. 5-13; Freel, E.M., Ingram, M., Wallace, A.M., White, A., Fraser, R., Davies, E., Connell, J.M., Effect of variation in CYP11B1 and CYP11B2 on corticosteroid phenotype and hypothalamic-pituitary-adrenal axis activity in hypertensive and normotensive subjects (2008) Clin Endocrinol (Oxf), 68, pp. 700-706; Freel, E.M., Ingram, M., Friel, E.C., Fraser, R., Brown, M., Samani, N.J., Caulfield, M., Connell, J.M., Phenotypic consequences of variation across the aldosterone synthase and 11ß-hydroxylase locus in a hypertensive cohort: Data from the MRC BRIGHT Study (2007) Clin Endocrinol (Oxf), 67, pp. 832-838
PY - 2011
Y1 - 2011
N2 - Aldosterone biosynthesis is not only altered in rare mendelian disorders. Recent evidence suggests that common polymorphisms in the genes mediating the final stages of aldosterone and cortisol production (CYP11B1 and CYP11B2 respectively) are also associated with milder alterations in adrenal corticosteroid biosynthesis. These abnormalities consist of a decrease in adrenal 11ß-hydroxylase activity and a subtle, life-long excess of aldosterone secretion which may lead to long-term cardiovascular risks. An interaction between the CYP11B1 and CYP11B2 genes may exist but is yet to be elucidated. This article describes the studies which highlight the importance of adrenal steroid synthesis in the development of hypertension and cardiovascular dysfunction as well as the role of common polymorphisms in adrenal synthetic genes in altering corticosteroid biosynthesis. Copyright © 2011 S. Karger AG, Basel.
AB - Aldosterone biosynthesis is not only altered in rare mendelian disorders. Recent evidence suggests that common polymorphisms in the genes mediating the final stages of aldosterone and cortisol production (CYP11B1 and CYP11B2 respectively) are also associated with milder alterations in adrenal corticosteroid biosynthesis. These abnormalities consist of a decrease in adrenal 11ß-hydroxylase activity and a subtle, life-long excess of aldosterone secretion which may lead to long-term cardiovascular risks. An interaction between the CYP11B1 and CYP11B2 genes may exist but is yet to be elucidated. This article describes the studies which highlight the importance of adrenal steroid synthesis in the development of hypertension and cardiovascular dysfunction as well as the role of common polymorphisms in adrenal synthetic genes in altering corticosteroid biosynthesis. Copyright © 2011 S. Karger AG, Basel.
KW - aldosterone
KW - aldosterone synthase
KW - cytochrome P 450 CYP11B1
KW - cytochrome P450
KW - synthetic DNA
KW - unclassified drug
KW - aldosterone synthesis
KW - article
KW - cardiovascular disease
KW - cardiovascular risk
KW - gene expression regulation
KW - gene locus
KW - genetic polymorphism
KW - genetic variability
KW - human
KW - hypertension
KW - nonhuman
KW - population genetics
KW - primary hyperaldosteronism
KW - priority journal
KW - steroidogenesis
KW - Aldosterone
KW - Aldosterone Synthase
KW - Animals
KW - Cardiovascular Diseases
KW - Genetic Variation
KW - Humans
KW - Hypertension
KW - Linkage Disequilibrium
KW - Models, Biological
KW - Polymorphism, Single Nucleotide
KW - Steroid 11-beta-Hydroxylase
U2 - 10.1159/000321229
DO - 10.1159/000321229
M3 - Chapter
C2 - 21164264
SN - 9783805596435
VL - 20
T3 - Endocrine Development
SP - 106
EP - 115
BT - Endocrine Development
A2 - Ghizzoni, L.
A2 - Cappa, M.
A2 - Chrousos, G.
A2 - Loche, S.
A2 - Maghnie, M.
PB - Karger
CY - Basel
ER -