ESPEYB20 6. Adrenals New Genes (1 abstracts)
6.11. Identification of risk loci for primary aldosteronism in genome-wide association studies
Le Floch E , Cosentino T , Larsen CK , Beuschlein F , Reincke M , Amar L , Rossi GP , De Sousa K , Baron S , Chantalat S , Saintpierre B , Lenzini L , Frouin A , Giscos-Douriez I , Ferey M , Abdellatif AB , Meatchi T , Empana JP , Jouven X , Gieger C , Waldenberger M , Peters A , Cusi D , Salvi E , Meneton P , Touvier M , Deschasaux M , Druesne-Pecollo N , Boulkroun S , Fernandes-Rosa FL , Deleuze JF , Jeunemaitre X & Zennaro MC
Nat Commun. 2022; 13(1): 5198.PMID: 36057693. https://pubmed.ncbi.nlm.nih.gov/36057693/
Brief summary: This genome-wide association study (GWAS) reports the first genetic loci for risk of primary aldosteronism. New candidate genes and their potential mechanisms for the development of aldosterone excess are described.
Primary aldosteronism (PA) is the most frequent form of secondary hypertension (5% of patients with hypertension in primary care and 10–20% of patients with hypertension referred to specialist care). PA is associated with cardiovascular complications that exceed those of patients with essential hypertension matched for age and blood pressure (1, 2). In this study, the authors hypothesized that genetic variation may predispose to the development of PA. They sought to identify risk loci for PA by performing a genome-wide association study (GWAS).
Three risk loci were identified on chromosome 1, 13 and X, respectively. The locus on chromosome 13 was specific to males. The authors further investigated their top two significant risk loci, on chromosome 1 and 13, and identified candidate genes in these regions (CASZ1 and RXFP2). CASZ1 and RXFP2 are expressed in the adrenal gland and suppress mineralocorticoid biosynthesis in adrenocortical H295R-S2 cells overexpressing either CASZ1 or RXFP2, indicating a novel ability to modify mineralocorticoid output in the adrenal gland. Hence, the authors suggest that risk alleles at chromosome 1 and 13 may increase the susceptibility to develop PA. The identification of new risk loci as well as the new candidate genes for the development of PA may open up new perspectives for the diagnosis and treatment of arterial hypertension.
References: 1. Käyser SC, et al. Study heterogeneity and estimation of prevalence of primary aldosteronism: a systematic review and meta-regression analysis. J. Clin. Endocrinol. Metab. 2016; 101:2826–2835. 2. Funder JW, et al. The management of primary aldosteronism: case detection, diagnosis, and treatment: an endocrine society clinical practice guideline. J. Clin. Endocrinol. Metab. 2016; 101:1889–1916.
Volume 20
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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