Evidence map›Paper›PMID 36057693›Full record

SynthesisNature communications2022

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 and 23 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 1 pooled it
5.6field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

27 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Primary aldosteronism.Nature reviews. Disease primers · 2026
    Review
  6. Article
  7. Hypertensive Disorders of Pregnancy and Primary Aldosteronism.Hypertension (Dallas, Tex. : 1979) · 2026
    Article
  8. Article
  9. Article
  10. Article
  11. Hypertensive Disorders of Pregnancy and Primary Aldosteronism.medRxiv : the preprint server for health sciences · 2026
    Article
  12. Review
  13. Subclinical primary aldosteronism.Archives of endocrinology and metabolism · 2025
    Review
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

33 authors at 11 institutions in 4 countries.

Edith Le Floch *Centre National de Recherche en Génomique Humaine, Institut de biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
Teresa Cosentino *Université Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Casper K LarsenUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Felix BeuschleinMedizinische Klinik und Poliklinik IV, Ludwig-Maximilians-University, 80336, Munich, Germany.ORCID 0000-0001-7826-3984
Martin ReinckeMedizinische Klinik und Poliklinik IV, Ludwig-Maximilians-University, 80336, Munich, Germany.ORCID 0000-0002-9817-9875
Laurence AmarUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Gian-Paolo RossiDMCS 'G. Patrassi' University of Padova Medical School, University Hospital, 35126, Padova, Italy.
Kelly De SousaUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Stéphanie BaronUniversité Paris Cité, F-75006, Paris, France.
Sophie ChantalatCentre National de Recherche en Génomique Humaine, Institut de biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
Benjamin SaintpierreUniversité Paris Cité, Institut Cochin, Genom'IC platform, INSERM, CNRS, 75014, Paris, France.
Livia LenziniDMCS 'G. Patrassi' University of Padova Medical School, University Hospital, 35126, Padova, Italy.
Arthur FrouinCentre National de Recherche en Génomique Humaine, Institut de biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
Isabelle Giscos-DouriezUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Matthis FereyUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Alaa B AbdellatifUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Tchao MeatchiUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Jean-Philippe EmpanaUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Xavier JouvenUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.
Christian GiegerResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0001-6986-9554
Melanie WaldenbergerResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0003-0583-5093
Annette PetersInstitute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0001-6645-0985
Daniele CusiInstitute of Biomedical Technologies National Research Council of Italy, Milan, Italy.
Erika SalviNeuroalgology Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.ORCID 0000-0002-2724-2291
Pierre MenetonUMR_1142, INSERM, Sorbonne Université, Université Paris 13, Paris, France.
Mathilde TouvierSorbonne Paris Nord University, INSERM U1153, INRAe U1125, CNAM, Nutritional Epidemiology Research Team (EREN), Epidemiology and Statistics Research Center - Université Paris Cité (CRESS), 93017, Bobigny, France.
Mélanie DeschasauxSorbonne Paris Nord University, INSERM U1153, INRAe U1125, CNAM, Nutritional Epidemiology Research Team (EREN), Epidemiology and Statistics Research Center - Université Paris Cité (CRESS), 93017, Bobigny, France.
Nathalie Druesne-PecolloSorbonne Paris Nord University, INSERM U1153, INRAe U1125, CNAM, Nutritional Epidemiology Research Team (EREN), Epidemiology and Statistics Research Center - Université Paris Cité (CRESS), 93017, Bobigny, France.
Sheerazed BoulkrounUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.ORCID 0000-0002-8796-7534
Fabio L Fernandes-RosaUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.ORCID 0000-0002-0162-0792
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine, Institut de biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.ORCID 0000-0002-5358-4463
Xavier JeunemaitreUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France.ORCID 0000-0001-5925-381X
Maria-Christina ZennaroUniversité Paris Cité, Inserm, PARCC, F-75015, Paris, France. maria-christina.zennaro@inserm.fr.ORCID 0000-0001-5449-9191
Inserm · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRConservatoire National des Arts et Métiers · FRHelmholtz Zentrum München · DEUniversity of Padua · ITCentre National de la Recherche Scientifique · FRFondazione IRCCS Istituto Neurologico Carlo Besta · ITInstitute of Biomedical Technologies · ITLudwig-Maximilians-Universität München · DEUniversitätsklinik für Diabetologie, Endokrinologie, Ernährungsmedizin & Metabolismus · CHUniversité Paris Cité · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Adrenal Cortex NeoplasmsAdrenocortical AdenomaHyperaldosteronismAdrenalectomyAldosteroneAnimalsDNA-Binding ProteinsGenome-Wide Association StudyHumansMaleMiceTranscription FactorsAldosteroneCASZ1 protein, humanDNA-Binding ProteinsTranscription Factors

Identifiers

PMID36057693
PMCPMC9440917
OpenAlexW4294391404

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.