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

Edith Le Floch, Teresa Cosentino, Casper K. Larsen, Felix Beuschlein, Martin Reincke, Laurence Amar, Gian-Paolo Rossi, Kelly De Sousa, Stéphanie Baron, Sophie Chantalat, Benjamin Saintpierre, Livia Lenzini, Arthur Frouin, Isabelle Giscos-Douriez, Matthis Ferey, Alaa B. Abdellatif, Tchao Meatchi, Jean-Philippe Empana, Xavier Jouven, Christian Gieger, Melanie Waldenberger, Annette Peters, Daniele Cusi, Erika Salvi, Pierre Meneton, Mathilde Touvier, Mélanie Deschasaux, Nathalie Druesne-Pecollo, Sheerazed Boulkroun, Fabio L. Fernandes-Rosa, Jean-François Deleuze, Xavier Jeunemaitre and Maria-Christina Zennaro ()
Additional contact information
Edith Le Floch: Université Paris-Saclay
Teresa Cosentino: Université Paris Cité, Inserm, PARCC
Casper K. Larsen: Université Paris Cité, Inserm, PARCC
Felix Beuschlein: Ludwig-Maximilians-University
Martin Reincke: Ludwig-Maximilians-University
Laurence Amar: Université Paris Cité, Inserm, PARCC
Gian-Paolo Rossi: University Hospital
Kelly De Sousa: Université Paris Cité, Inserm, PARCC
Stéphanie Baron: Université Paris Cité
Sophie Chantalat: Université Paris-Saclay
Benjamin Saintpierre: Université Paris Cité, Institut Cochin, Genom’IC platform, INSERM, CNRS
Livia Lenzini: University Hospital
Arthur Frouin: Université Paris-Saclay
Isabelle Giscos-Douriez: Université Paris Cité, Inserm, PARCC
Matthis Ferey: Université Paris Cité, Inserm, PARCC
Alaa B. Abdellatif: Université Paris Cité, Inserm, PARCC
Tchao Meatchi: Université Paris Cité, Inserm, PARCC
Jean-Philippe Empana: Université Paris Cité, Inserm, PARCC
Xavier Jouven: Université Paris Cité, Inserm, PARCC
Christian Gieger: German Research Center for Environmental Health
Melanie Waldenberger: German Research Center for Environmental Health
Annette Peters: German Research Center for Environmental Health
Daniele Cusi: Institute of Biomedical Technologies National Research Council of Italy
Erika Salvi: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’
Pierre Meneton: Sorbonne Université, Université Paris 13
Mathilde Touvier: Epidemiology and Statistics Research Center – Université Paris Cité (CRESS)
Mélanie Deschasaux: Epidemiology and Statistics Research Center – Université Paris Cité (CRESS)
Nathalie Druesne-Pecollo: Epidemiology and Statistics Research Center – Université Paris Cité (CRESS)
Sheerazed Boulkroun: Université Paris Cité, Inserm, PARCC
Fabio L. Fernandes-Rosa: Université Paris Cité, Inserm, PARCC
Jean-François Deleuze: Université Paris-Saclay
Xavier Jeunemaitre: Université Paris Cité, Inserm, PARCC
Maria-Christina Zennaro: Université Paris Cité, Inserm, PARCC

Nature Communications, 2022, vol. 13, issue 1, 1-17

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.

Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-022-32896-8 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-32896-8

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-022-32896-8

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().