Impact of mineralocorticoid receptor polymorphisms on urinary electrolyte excretion with and without diuretic drugs

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.

Medienart:

E-Artikel

Erscheinungsjahr:

2015

Erschienen:

2015

Enthalten in:

Zur Gesamtaufnahme - volume:16

Enthalten in:

Pharmacogenomics - 16(2015), 2 vom: 06. Jan., Seite 115-27

Sprache:

Englisch

Beteiligte Personen:

Dalila, Nawar [VerfasserIn]
Brockmöller, Jürgen [VerfasserIn]
Tzvetkov, Mladen Vassilev [VerfasserIn]
Schirmer, Markus [VerfasserIn]
Haubrock, Martin [VerfasserIn]
Vormfelde, Stefan Viktor [VerfasserIn]

Links:

Volltext

Themen:

0J48LPH2TH
0Y2S3XUQ5H
451W47IQ8X
7LXU5N7ZO5
Aldosterone
Antihypertensive agents
Bumetanide
Diuretics
Electrolytes
Furosemide
Hydrochlorothiazide
Journal Article
LHX4
Loop diuretics
Mineralocorticoid receptor
NR3C2
Pharmacogenetics
Polymorphisms
Potassium
RWP5GA015D
Randomized Controlled Trial
Receptors, Mineralocorticoid
Sodium Chloride
Sulfonamides
Torsemide
Triamterene
W31X2H97FB
WS821Z52LQ

Anmerkungen:

Date Completed 15.01.2016

Date Revised 02.12.2018

published: Print

Citation Status MEDLINE

doi:

10.2217/pgs.14.163

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM24560538X