Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

CYP11B2 gene polymorphisms in idiopathic hyperaldosteronism.

P Mulatero1, D Schiavone, F Fallo

  • 1Department of Medicine and Experimental Oncology, Hypertension Unit, University of Torino, Torino, Italy. mulatero@tin.it

Hypertension (Dallas, Tex. : 1979)
|March 18, 2000
PubMed
Summary

Genetic variations in the aldosterone synthase gene (CYP11B2) may increase susceptibility to idiopathic hyperaldosteronism (IHA), a form of primary aldosteronism. A specific haplotype (C2R) was more frequent in IHA patients.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Correction: Rosiglitazone modifies the adipogenic potential of human muscle satellite cells.

Diabetologia·2025
Same author

Machine learning applied to ambulatory blood pressure monitoring: a new tool to diagnose autonomic failure?

Journal of neurology·2022
Same author

Reduced adrenal surgery in COVID-19 pandemic: a possible ticking time bomb.

The British journal of surgery·2021
Same author

The effects of mitotane and 1α,25-dihydroxyvitamin D<sub>3</sub> on Wnt/beta-catenin signaling in human adrenocortical carcinoma cells.

Journal of endocrinological investigation·2019
Same author

Sleep disorders and cognitive dysfunction in acromegaly.

Endocrine·2019
Same author

Grazing Management and Buffer Strip Impact on Nitrogen Runoff from Pastures Fertilized with Poultry Litter.

Journal of environmental quality·2019

Area of Science:

  • Endocrinology
  • Genetics
  • Hypertension Research

Background:

  • Primary aldosteronism presents as aldosterone-producing adenoma (APA) or idiopathic hyperaldosteronism (IHA), both causing arterial hypertension.
  • While APA is curable via surgery, IHA necessitates medication, with its genetic underpinnings remaining unclear.
  • Genetic factors are hypothesized to influence the autonomous aldosterone production seen in IHA.

Purpose of the Study:

  • To investigate the association between aldosterone synthase gene (CYP11B2) variants and susceptibility to idiopathic hyperaldosteronism (IHA).
  • To compare CYP11B2 gene polymorphisms in patients with IHA, APA, essential hypertension, and normotensive individuals.

Main Methods:

  • Genotyping at three polymorphic sites within the CYP11B2 gene.

Related Experiment Videos

  • Comparison of genotype frequencies across four study groups: IHA (n=90), APA (n=38), essential hypertension (n=72), and normotensive controls (n=102).
  • Analysis of linkage disequilibrium and haplotype frequencies.

    • Main Results:

    • Significant linkage disequilibrium was observed among the three CYP11B2 polymorphisms, forming two common haplotypes.
    • The C2R haplotype showed a significantly higher frequency in the IHA group (47%) compared to other groups (approximately 36%).
    • The studied polymorphisms have prior associations with essential hypertension or excess aldosterone production.

    Conclusions:

    • Variations within the CYP11B2 gene are suggested to play a role in the dysregulation of aldosterone synthesis.
    • These CYP11B2 gene variations may contribute to an increased susceptibility to developing idiopathic hyperaldosteronism (IHA).