Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Because hypertension in Black people tends to be of the low-renin, salt sensitive type, we genotyped independent sets of hypertensives of Afro-American (59 kindreds) and Afro-Caribbean (66 kindreds) origin using a highly polymorphic (heterozygosity index 0.84) CA repeat polymorphism in the first intron of HSD11B2. 11531933 2001
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE A microsatellite marker within the HSD11B2 gene associates with salt sensitivity and hypertension--phenotypes characterising diabetic nephropathy. 11916625 2002
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group LHGDN The decreased activity of 11beta-HSD2 increases the intracellular availability of cortisol, which might be relevant for the pathogenesis of hypertension and preeclampsia. 12911547 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE 11beta-HSD2 protects the mineralocorticoid receptor from cortisol excess; mutations in the HSD11B2 gene explain an inherited form of hypertension, the syndrome of 'apparent mineralocorticoid excess', in which 'Cushing's disease of the kidney' results in cortisol-mediated mineralocorticoid excess. 12943516 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group LHGDN Variable activity of 11 beta HSD2 is relevant for blood pressure control and hypertension. 15489962 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Mutations in the gene encoding 11beta-HSD2 (HSD11B2) account for an inherited form of hypertension, the syndrome of "Apparent Mineralocorticoid Excess" (AME) where cortisol induces hypertension and hypokalaemia. 15134813 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group LHGDN Impaired 11-beta hydroxysteroid dehydrogenase type 2 activity in sweat gland ducts in human essential hypertension. 14981055 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE AME represents a spectrum of mineralocorticoid hypertension with severity reflecting the underlying genetic defect in the 11beta-HSD2; although AME is a genetic disorder, several exogenous compounds can bring about the symptoms by inhibiting 11beta-HSD2 enzyme. 15761540 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE Variable activity of 11 beta HSD2 is relevant for blood pressure control and hypertension. 15489962 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE Impaired 11beta-HSD2 activity has been suggested in patients with hypertension as well as in patients with renal disease, where it may contribute to sodium retention, oedema and hypertension. 16061836 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE The aim of the study was to analyze the HSD11B2 gene to assess whether some of its variants might be involved in hypertension. 16109323 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE We have investigated the role of HSD11B2 in hypertension in 377 genetically homogeneous essential hypertensives from North Sardinia. 15673310 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Epidemiological data suggests that polymorphic variability in the HSD11B2 gene determines salt sensitivity in the general population, which is a key predisposing factor to adult onset hypertension in some patients. 16980198 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group LHGDN In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. 16778331 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE Therefore, impaired 11beta-HSD2 protein stability rather than reduced gene expression or loss of catalytic activity seems to be responsible for the development of hypertension in some individuals with AME. 17314322 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE The enhanced cortisol levels are backed by recent genetic findings on HSD11B2 polymorphisms and may promote hypertension. 18337758 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 PosttranslationalModification group LHGDN These results show a clear link between the epigenetic regulation through repression of HSD11B2 in PBMC DNA and hypertension. 18178212 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 PosttranslationalModification group BEFREE These results show a clear link between the epigenetic regulation through repression of HSD11B2 in PBMC DNA and hypertension. 18178212 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE In conclusion, 19-nor-P did not inhibit human 11beta-HSD2 and seems not to be involved in human hypertension. 19811365 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE These findings indicate that variants of the HSD11B2 gene may contribute to the enhanced blood pressure response to salt and possibly to hypertension in humans. 19909806 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE It has been reported that the G534A(Glu178/Glu) polymorphism in the HSD11B2 gene is associated with hypertension. 22278213 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Genotyping indicated no hypertension related mutations in the coding region and short introns of HSD11B2. 23303402 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE The isozyme 11beta-HSD2 is selectively expressed in mineralocorticoid target tissues and its activity is reduced in various disease states with abnormal sodium retention and hypertension, including the apparent mineralocorticoid excess. 25133511 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE To gain insight into potentially relevant miRNAs in vivo, we investigated 2 models with differential 11β-HSD2 activity linked with salt-sensitive hypertension. 24980668 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE The hypertension phenotype is also epigenetically modulated by HSD11B2 methylation in subjects heterozygous for the mutation. 26126204 2015