Impact of mineralocorticoid receptor polymorphisms on urinary electrolyte excretion with and without diuretic drugs.
Pharmacogenomics
; 16(2): 115-27, 2015 Jan.
Article
en En
| MEDLINE
| ID: mdl-25616098
ABSTRACT
AIM:
Polymorphisms in the mineralocorticoid receptor may affect urinary sodium and potassium excretion. We investigated polymorphisms in the MR gene in relation to urinary electrolyte excretion in two separate studies. PATIENTS &METHODS:
The genotype-phenotype association was studied in healthy volunteers after single doses of bumetanide, furosemide, torsemide, hydrochlorothiazide, triamterene and after NaCl restriction.RESULTS:
High potassium excretion under all conditions except torsemide, and high NaCl excretion after bumetanide and furosemide were associated with the A allele of the intron-3 polymorphism (rs3857080). This polymorphism explained 5-10% of the functional variation and in vitro, rs3857080 affected DNA binding of the transcription factor LHX4.CONCLUSION:
rs3857080 may be a promising new candidate for research in cardiac and renal disorders and on antialdosteronergic drugs like spironolactone.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Receptores de Mineralocorticoides
/
Diuréticos
/
Electrólitos
Tipo de estudio:
Clinical_trials
/
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Pharmacogenomics
Asunto de la revista:
FARMACOLOGIA
/
GENETICA MEDICA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
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UNITED KINGDOM