ReviewEuropean journal of endocrinology2021
GENETICS IN ENDOCRINOLOGY: Impact of race and sex on genetic causes of aldosterone-producing adenomas.
Review in European journal of endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 45 citations in OpenAlex.
- Primary aldosteronism.Nature reviews. Disease primers · 2026Review
- Rho/ROCK signaling and α-catenin mediate β-catenin-driven hyperplasia in the adrenal cortex via adherens junctions.The Journal of clinical investigation · 2026Article
- Primary Hyperaldosteronism: Epidemiology, Diagnosis, and Clinical Associations.Epidemiologia (Basel, Switzerland) · 2026Review
- Adrenal histologic and genetic characteristics of primary aldosteronism in late adulthood.European journal of endocrinology · 2026Article
- Primary aldosteronism beyond laterality: integrating subtype assignment with outcome-oriented risk stratification.Frontiers in endocrinology · 2026Review
- Abrogation of FGFR signaling blocks β-catenin-induced adrenocortical hyperplasia and aldosterone production.JCI insight · 2025Article
- Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations.Archives of endocrinology and metabolism · 2025Article
- Sexual dimorphism in benign adrenocortical tumours.European journal of endocrinology · 2025Review
- Intraprotocol Adrenal Vein Sampling Inconsistencies in Primary Aldosteronism Lateralization.Radiology · 2025Article
- The adrenal gland and primary aldosteronism: anatomy, steroidogenesis, regulation, and genetic insights.Frontiers in endocrinology · 2025Review
- Bilateral superselective adrenal artery embolization for bilateral primary aldosteronism: a novel approach in an efficacy and safety proof-of-principle trial.Hypertension research : official journal of the Japanese Society of Hypertension · 2025Article
- Revisiting sex as a biological variable in hypertension research.The Journal of clinical investigation · 2024Review
- [Gender medicine: endocrine and neuroendocrine diseases : Implications for surgery and perioperative management].Chirurgie (Heidelberg, Germany) · 2024Review
- Saline suppression testing-induced hypocalcemia and implications for clinical interpretations.European journal of endocrinology · 2024Article
- Evaluation of a Best-Practice Advisory for Primary Aldosteronism Screening.JAMA internal medicine · 2024Article
- Asymmetric Adrenals: Sexual Dimorphism of Adrenal Tumors.The Journal of clinical endocrinology and metabolism · 2024Observational
- Adrenalectomy for primary aldosteronism and its related surgical characteristics.Frontiers in endocrinology · 2024Review
- Adrenal Anion Channels: New Roles in Zona Glomerulosa Physiology and in the Pathophysiology of Primary Aldosteronism.Handbook of experimental pharmacology · 2024Article
- Impact of confirmatory test results on subtype classification and biochemical outcome following unilateral adrenalectomy in patients with primary aldosteronism.Frontiers in endocrinology · 2024Article
- Shifting paradigms in primary aldosteronism: reconsideration of screening strategy via integrating pathophysiological insights.Frontiers in endocrinology · 2024Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Primary aldosteronism (PA) is a common cause of secondary hypertension. Recent technological advances in genetic analysis have provided a better understanding of the molecular pathogenesis of this disease. The application of next-generation sequencing has resulted in the identification of somatic mutations in aldosterone-producing adenoma (APA), a major subtype of PA. Based on the recent findings using a sequencing method that selectively targets the tumor region where aldosterone synthase (CYP11B2) is expressed, the vast majority of APAs appear to harbor a somatic mutation in one of the aldosterone-driver genes, including KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, and CLCN2. Mutations in these genes alter intracellular ion homeostasis and enhance aldosterone production. In a small subset of APAs, somatic activating mutations in the CTNNB1 gene, which encodes β-catenin, have also been detected. Accumulating evidence suggests that race and sex impact the somatic mutation spectrum of APA. Specifically, somatic mutations in the KCNJ5 gene, encoding an inwardly rectifying K+ channel, are common in APAs from Asian populations as well as women regardless of race. Associations between APA histology, genotype, and patient clinical characteristics have also been proposed, suggesting a potential need to consider race and sex for the management of PA patients. Herein, we review recent findings regarding somatic mutations in APA and discuss potential roles of race and sex on the pathophysiology of APA as well as possible clinical implications.
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