Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Glucocorticoid-remediable aldosteronism, apparent mineralocorticoid excess, and mutations in the mineralocorticoid receptor gene have given us brilliant insights into mineralocorticoid-induced hypertension. 11891501 2002
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Suppression of renin and higher aldosterone concentrations in the context of this renin suppression are associated with an increased risk for hypertension and possibly also with increased MR activity. 29052707 2017
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Angiotensin II (AngII) and the mineralocorticoid receptor (MR) ligand aldosterone both contribute to cardiovascular disorders, including hypertension and adverse vascular remodeling. 31373631 2019
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension. 15908963 2005
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Thirty-eight women with hypertension during pregnancy were tested for the mineralocorticoid receptor gene mutation. 15117605 2004
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Three SNPs (rs11737660, rs6810951, and rs10519963) in NR3C2 correlate with both blood pressure and hypertension. 21342026 2011
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE The aim of this study was to evaluate the genotypic distribution of mineralocorticoid receptor and cytochrome P450 11B2 (CYP11B2) T-344C polymorphisms and their relationship with hypertension and cardiac remodeling in a Taiwanese population. 23275203 2013
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Recently, the molecular basis of four forms of severe hypertension transmitted on an autosomal basis has been elucidated: (a) the glucocorticoid-remediable aldosteronism (GRA), (b) the syndrome of apparent mineralocorticoid excess (AME), (c) activating mutation of the mineralocorticoid receptor and (d) Liddle's syndrome. 11740142 2001
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE We discuss the possible underlying mechanisms for the delayed manifestation of hypertension and electrolyte disturbances in AME, propose an additional explanation for the stroke in this patient, and advise treatment with a mineralocorticoid receptor antagonist to reduce stroke risk in patients with AME. 21536617 2011
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Based on considerations of well-established clinical efficacy in hypertension and heart failure with reduced ejection fraction and the shortcomings of aforementioned clinical trials in HFpEF, we argue that RAAS blockers including MRAs (mineralocorticoid receptor antagonists; aldosterone antagonists) should be used in the treatment of patients with HFpEF. 31786973 2020
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE The purpose of this project was to investigate the association of MR gene variants with serum aldosterone and a previously identified hypertension subgroup with higher urinary free cortisol (UFC) levels (high-mode UFC) in a rigorously phenotyped Caucasian hypertensive cohort. 22723323 2012
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE In contrast, a MR gain-of-function mutation has been associated with a familial form of inherited mineralocorticoid hypertension exacerbated by pregnancy. 28348114 2017
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE A mineralocorticoid receptor mutation causing human hypertension. 11496062 2001
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE To review comparative efficacy and tolerability data between the two main mineralocorticoid receptor antagonists (MRAs), spironolactone and eplerenone, in patients with resistant hypertension (HTN). 30826898 2019
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE A gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. 16419642 2005
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE However, all steroid ligands that display antagonist properties when bound to MR(WT), have been shown to activate a mutant receptor (MR(L810)) associated with a severe form of hypertension. 15134816 2004
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE We describe a mutation in the mineralocorticoid receptor (MR), S810L, that causes early-onset hypertension that is markedly exacerbated in pregnancy. 10884226 2000
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE In the MS population, the C/G and G/G genotypes of single-nucleotide polymorphism rs1040288 (NR3C2) and A/G and G/G of rs11099680 (NR3C2) were associated with uncontrolled AHT (odds ratio (OR)=2.94 (1.34-6.47) and OR=2.54 (1.09-5.93), respectively). 21471972 2011
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE The maximum LOD for early-onset hypertension in African Americans was also on chromosome 4 at 153 cM (LOD = 2.05) and overlies the mineralocorticoid receptor. 15363829 2004
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group LHGDN Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension. 15908963 2005
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Mutations in the 11beta-HSD2 gene cause a rare form of inherited hypertension, the syndrome of apparent mineralocorticoid excess (AME), in which cortisol activates the MR resulting in severe hypertension and hypokalemia. 16980198 2006
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE The associations of MR polymorphism (rs5522) and comorbidity with hypertension with clinicopathological parameters as well as progression-free survival and overall survival were examined. 30619769 2018
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE The aim of this study was to analyze the association between the MR p.I180V polymorphism with hypertension and markers of cardiovascular risk. 19955850 2010
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE Because the plasma concentration of cortisol in humans is about 30-fold higher than that of corticosterone, these findings strongly suggest that cortisone is one of the endogenous steroids responsible for early-onset hypertension in men and nonpregnant women carrying the MR(L810) mutation. 12538613 2003
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.200 GeneticVariation group BEFREE CYP3A5 (cytochrome P450, family 3, subfamily A, polypeptide 5) expression stimulates the sodium retentive actions of the mineralocorticoid receptor causative of hypertension, probably by means of its ability to substantially increase the level of 6β-hydroxylase activity. 27334520 2016