ACTH and Polymorphisms at Steroidogenic Loci as Determinants of Aldosterone Secretion and Blood Pressure

Scott M. MacKenzie (Lead / Corresponding author), E. Marie Freel, John M. Connell, Robert Fraser, Eleanor Davies

    Research output: Contribution to journalReview articlepeer-review

    5 Citations (Scopus)
    181 Downloads (Pure)


    The majority of genes contributing to the heritable component of blood pressure remain unidentified, but there is substantial evidence to suggest that common polymorphisms at loci involved in the biosynthesis of the corticosteroids aldosterone and cortisol are important. This view is supported by data from genome-wide association studies that consistently link the CYP17A1 locus to blood pressure. In this review article, we describe common polymorphisms at three steroidogenic loci (CYP11B2, CYP11B1 and CYP17A1) that alter gene transcription efficiency and levels of key steroids, including aldosterone. However, the mechanism by which this occurs remains unclear. While the renin angiotensin system is rightly regarded as the major driver of aldosterone secretion, there is increasing evidence that the contribution of corticotropin (ACTH) is also significant. In light of this, we propose that the differential response of variant CYP11B2, CYP11B1 and CYP17A1 genes to ACTH is an important determinant of blood pressure, tending to predispose individuals with an unfavourable genotype to hypertension.

    Original languageEnglish
    Article number579
    Number of pages11
    JournalInternational Journal of Molecular Sciences
    Issue number3
    Publication statusPublished - 7 Mar 2017


    • Journal article
    • Review
    • Hypertension
    • ACTH
    • Aldosterone
    • CYP11B2
    • CYP11B1
    • CYP17A1


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