Skip to Main content Skip to Navigation
New interface
Journal articles

Identification of risk loci for primary aldosteronism in genome-wide association studies

Edith Le Floch 1, 2 Teresa Cosentino 3 Casper K Larsen 3 Felix Beuschlein 4, 5 Martin Reincke 4 Laurence Amar 3, 6 Gian-Paolo Rossi 7 Kelly de Sousa 3 Stéphanie Baron 6, 8 Sophie Chantalat 1, 2 Benjamin Saintpierre 9 Livia Lenzini 7 Arthur Frouin 1, 2 Isabelle Giscos-Douriez 3 Matthis Ferey 3 Alaa B Abdellatif 3 Tchao Meatchi 3, 6 Jean-Philippe Empana 3 Xavier Jouven 3, 6 Christian Gieger 10, 11 Melanie Waldenberger 10, 12 Annette Peters 10, 11, 12 Daniele Cusi 13 Erika Salvi 14 Pierre Meneton 15 Mathilde Touvier 16 Mélanie Deschasaux 16 Nathalie Druesne-Pecollo 16 Sheerazed Boulkroun 3 Fabio L Fernandes-Rosa 3 Jean-François Deleuze 1, 2 Xavier Jeunemaitre 3, 6 Maria-Christina Zennaro 3, 6 
Abstract : Abstract Primary aldosteronism affects up to 10% of hypertensive patients and is responsible for treatment resistance and increased cardiovascular risk. Here we perform a genome-wide association study in a discovery cohort of 562 cases and 950 controls and identify three main loci on chromosomes 1, 13 and X; associations on chromosome 1 and 13 are replicated in a second cohort and confirmed by a meta-analysis involving 1162 cases and 3296 controls. The association on chromosome 13 is specific to men and stronger in bilateral adrenal hyperplasia than aldosterone producing adenoma. Candidate genes located within the two loci, CASZ1 and RXFP2 , are expressed in human and mouse adrenals in different cell clusters. Their overexpression in adrenocortical cells suppresses mineralocorticoid output under basal and stimulated conditions, without affecting cortisol biosynthesis. Our study identifies the first risk loci for primary aldosteronism and highlights new mechanisms for the development of aldosterone excess.
Complete list of metadata

https://www.hal.inserm.fr/inserm-03845164
Contributor : Fabio Fernandes Rosa Connect in order to contact the contributor
Submitted on : Wednesday, November 9, 2022 - 12:23:18 PM
Last modification on : Friday, November 25, 2022 - 7:07:32 PM

File

41467_2022_Article_32896.pdf
Publication funded by an institution

Identifiers

Citation

Edith Le Floch, Teresa Cosentino, Casper K Larsen, Felix Beuschlein, Martin Reincke, et al.. Identification of risk loci for primary aldosteronism in genome-wide association studies. Nature Communications, 2022, 13 (1), pp.5198. ⟨10.1038/s41467-022-32896-8⟩. ⟨inserm-03845164⟩

Share

Metrics

Record views

0

Files downloads

0