盐皮质激素受体基因多态性对使用和未使用利尿剂时尿电解质排泄的影响。
Impact of mineralocorticoid receptor polymorphisms on urinary electrolyte excretion with and without diuretic drugs.
作者信息
Dalila Nawar, Brockmöller Jürgen, Tzvetkov Mladen Vassilev, Schirmer Markus, Haubrock Martin, Vormfelde Stefan Viktor
机构信息
Institute of Clinical Pharmacology, University Medical Center Göttingen, Göttingen, Germany.
出版信息
Pharmacogenomics. 2015 Jan;16(2):115-27. doi: 10.2217/pgs.14.163.
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.
目的
盐皮质激素受体的多态性可能影响尿钠和钾排泄。我们在两项独立研究中调查了盐皮质激素受体（MR）基因多态性与尿电解质排泄的关系。
患者与方法
在健康志愿者单次服用布美他尼、呋塞米、托拉塞米、氢氯噻嗪、氨苯蝶啶后以及限制氯化钠摄入后，研究基因型与表型的关联。
结果
除托拉塞米外，在所有条件下高钾排泄，以及在布美他尼和呋塞米后高氯化钠排泄与内含子3多态性（rs3857080）的A等位基因相关。这种多态性解释了5 - 10%的功能变异，并且在体外，rs3857080影响转录因子LHX4的DNA结合。
结论
rs3857080可能是心脏和肾脏疾病以及螺内酯等抗醛固酮药物研究中一个有前景的新候选基因。
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