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Impact of race and sex on genetic causes of aldosterone-producing adenomas
- Source :
- Eur J Endocrinol
- Publication Year :
- 2021
-
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.
- Subjects :
- Male
Calcium Channels, L-Type
education
Black People
Article
White People
Calcium Channels, T-Type
Plasma Membrane Calcium-Transporting ATPases
Sex Factors
Asian People
Chloride Channels
mental disorders
Hyperaldosteronism
Cytochrome P-450 CYP11B2
Humans
beta Catenin
Racial Groups
Adrenal Cortex Neoplasms
Black or African American
CLC-2 Chloride Channels
G Protein-Coupled Inwardly-Rectifying Potassium Channels
Adrenocortical Adenoma
Steroid 11-beta-Hydroxylase
Female
Sodium-Potassium-Exchanging ATPase
psychological phenomena and processes
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Eur J Endocrinol
- Accession number :
- edsair.pmid..........c3c5c913d9fe0eeb18742204b09ddf93