Role of genetic variation in regulation of aldosterone biosynthesis

S. Alvarez-Madrazo, J. M. Connell, E. Marie Freel

    Research output: Chapter in Book/Report/Conference proceedingChapter

    3 Citations (Scopus)


    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.
    Original languageUndefined/Unknown
    Title of host publicationEndocrine Development
    Subtitle of host publicationPediatric Adrenal Disease
    EditorsL. Ghizzoni, M. Cappa, G. Chrousos, S. Loche, M. Maghnie
    Place of PublicationBasel
    Number of pages10
    ISBN (Electronic)9783805596442
    ISBN (Print)9783805596435
    Publication statusPublished - 2011

    Publication series

    NameEndocrine Development
    ISSN (Print)1421-7082
    ISSN (Electronic)1662-2979


    • 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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