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ey0015.8-2 | Mechanism of the Year | ESPEYB15

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

FL Fernandes-Rosa , G Daniil , IJ Orozco , C Göppner , R El Zein , V Jain , S Boulkroun , X Jeunemaitre , L Amar , H Lefebvre , T Schwarzmayr , TM Strom , TJ Jentsch , MC Zennaro

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

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ey0020.6-11 | New Genes | ESPEYB20

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

E Le Floch , T Cosentino , CK Larsen , F Beuschlein , M Reincke , L Amar , GP Rossi , K De Sousa , S Baron , S Chantalat , B Saintpierre , L Lenzini , A Frouin , I Giscos-Douriez , M Ferey , AB Abdellatif , T Meatchi , JP Empana , X Jouven , C Gieger , M Waldenberger , A Peters , D Cusi , E Salvi , P Meneton , M Touvier , M Deschasaux , N Druesne-Pecollo , S Boulkroun , FL Fernandes-Rosa , JF Deleuze , X Jeunemaitre , MC Zennaro

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 1020% of patients with hypertension referred to specialist care). PA is associated with c...

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ESPE Yearbook of Paediatric Endocrinology

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

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

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