rs5522, NR3C2

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
High altitude pulmonary edema
CUI: C0340100
Disease: High altitude pulmonary edema
0.010 GeneticVariation BEFREE The rs5522 polymorphism of the NR3C2 gene was associated with HAPE </span>susceptibility in Chinese subjects. 30292562 2018
Chronic central serous chorioretinopathy
0.010 GeneticVariation BEFREE Moreover, the GA haplotype of single-nucleotide polymorphisms rs2070951 and rs5522 in NR3C2 conferred risk for cCSC (odds ratio, 1.39; 95% CI, 1.15-1.68; P = .004), whereas the CA haplotype decreased risk for cCSC (odds ratio, 0.72; 95% CI, 0.60-0.87; P < .001). 28334414 2017
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
0.010 GeneticVariation BEFREE Left ventricular hypertrophy (LVH) was more prevalent in G carriers than AA homozygous for rs5522 but not for rs2070951 in RHTN. 26049084 2016
Resistant hypertensive disorder
CUI: C0745130
Disease: Resistant hypertensive disorder
0.010 GeneticVariation BEFREE Association of Mineralocorticoid Receptor Polymorphism I180V With Left Ventricular Hypertrophy in Resistant Hypertension. 26049084 2016
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
0.010 GeneticVariation BEFREE Interaction between GR and MR polymorphisms and antenatal glucocorticoid treatment was observed, with poorer IQ scores for exposed N363S carriers; poorer intellectual subdomain scores for exposed I180V-carriers; more favorable total problem behavior scores for exposed R23K carriers. 25406795 2015
Eating Disorders
CUI: C0013473
Disease: Eating Disorders
0.010 GeneticVariation BEFREE In this pilot study, we tested the hypothesis that an interaction between common variants in the MR (rs5522) or GR gene (rs41423247) and stressful life events influences perfectionism levels in a group of patients with an eating disorder (ED; n = 113). 25220664 2014
Eating Disorders
CUI: C0013473
Disease: Eating Disorders
0.010 GeneticVariation BEFREE A common mineralocorticoid receptor polymorphism (I180V) interacts with life events in relation to perfectionism in eating disorders: a pilot study. 25220664 2014
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
0.010 GeneticVariation BEFREE There is evidence that the Val allele of the MRI180V polymorphism (rs5522) increases the risk of depression, attention and cognitive deficits. 22584804 2013
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.010 GeneticVariation BEFREE There is evidence that the Val allele of the MRI180V polymorphism (rs5522) increases the risk of depression, attention and cognitive deficits. 22584804 2013
social stress
CUI: C0871388
Disease: social stress
0.010 GeneticVariation BEFREE Associations between single nucleotide polymorphisms (SNPs) in the GR (23EK-rs6190, 9beta-rs6198, BclI-rs4142324) and the MR gene (I180V-rs5522 and -2G/C (rs2070951) with cortisol and heart rate responses to a performance-related social stress task (public speaking and mental arithmetic) were examined in a large sample (n = 553) of adolescents (15-17 years). 20680430 2011
Anxiety
CUI: C0003467
Disease: Anxiety
0.010 GeneticVariation BEFREE Common functional MR single nucleotide polymorphisms (SNPs; MR -2G/C and I180V) and haplotypes were tested for association with variability in the CAR in a large cohort (Netherlands Study of Depression and Anxiety, NESDA) of patients diagnosed with a lifetime major depressive disorder (MDD). 20884124 2011
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
0.010 GeneticVariation BEFREE Common functional MR single nucleotide polymorphisms (SNPs; MR -2G/C and I180V) and haplotypes were tested for association with variability in the CAR in a large cohort (Netherlands Study of Depression and Anxiety, NESDA) of patients diagnosed with a lifetime major depressive disorder (MDD). 20884124 2011
social stress
CUI: C0871388
Disease: social stress
0.010 GeneticVariation BEFREE Associations between single nucleotide polymorphisms (SNPs) in the GR (23EK-rs6190, 9beta-rs6198, BclI-rs4142324) and the MR gene (I180V-rs5522 and -2G/C (rs2070951) with cortisol and heart rate responses to a performance-related social stress task (public speaking and mental arithmetic) were examined in a large sample (n = 553) of adolescents (15-17 years). 20680430 2011
Depressive Symptoms
CUI: C0086132
Disease: Depressive Symptoms
0.010 GeneticVariation BEFREE The mineralocorticoid receptor (MR) determines the sensitivity of the stress response, and the missense iso/val polymorphism (Ile180Val, rs5522) of the MR gene (NR3C2) has been associated with enhanced physiological stress responses, elevated depressive symptoms and reduced cortisol-induced MR gene expression. 20528958 2010
Fibromyalgia
CUI: C0016053
Disease: Fibromyalgia
0.010 GeneticVariation BEFREE The MR rs5522 (I180V) minor allele was found more often in FM patients than in controls and this variant was recently associated with a mild loss of receptor function. 18468809 2008
Fibromyalgia
CUI: C0016053
Disease: Fibromyalgia
0.010 GeneticVariation BEFREE The MR rs5522 (I180V) minor allele was found more often in FM patients than in controls and this variant was recently associated with a mild loss of receptor function. 18468809 2008
psychosocial stressor
CUI: C0748073
Disease: psychosocial stressor
0.010 GeneticVariation BEFREE The objective of the study was to investigate the role of the MR gene variant I180V in the neuroendocrine response to a psychosocial stressor and in electrolyte regulation. 17018659 2006
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.020 GeneticVariation BEFREE Previous research found that variants of the glucocorticoid receptor (GR) (9β, ER22/23EK, BclI, TthIIIl, NR3C1-1 and N363S) and mineralocorticoid receptor (MR) gene polymorphism (-2 C/G and I180V) are associated with both glucocorticoid (GC) sensitivity and major depressive disorder (MDD). 25765757 2015
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.020 GeneticVariation BEFREE Common functional MR single nucleotide polymorphisms (SNPs; MR -2G/C and I180V) and haplotypes were tested for association with variability in the CAR in a large cohort (Netherlands Study of Depression and Anxiety, NESDA) of patients diagnosed with a lifetime major depressive disorder (MDD). 20884124 2011
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.030 GeneticVariation BEFREE Genetic variation in <i>MR</i> (rs5522) and comorbidity with hypertension were significantly and potentially associated with prognosis when treated with ADT, respectively. 30619769 2018
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.030 GeneticVariation 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
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.030 GeneticVariation BEFREE One haplotype, which included the G allele of the rs5522</span>, was also associated with reduced risk of HTN and four haplotypes which included the A allele were associated with increased risk of HTN. 19325532 2009
Depressed mood
CUI: C0344315
Disease: Depressed mood
0.050 GeneticVariation BEFREE To investigate the hypothesis that the MR sex-dependently influences the relation between childhood maltreatment and depression, we investigated three common and functional MR haplotypes (GA, CA, and CG haplotype, based on rs5522 and rs2070951) in a population-based cohort (N = 665) and an independent clinical cohort from the Netherlands Study of Depression and Anxiety (NESDA) (N = 1639). 25686805 2015
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
0.050 GeneticVariation BEFREE To investigate the hypothesis that the MR sex-dependently influences the relation between childhood maltreatment and depression, we investigated three common and functional MR haplotypes (GA, CA, and CG haplotype, based on rs5522 and rs2070951) in a population-based cohort (N = 665) and an independent clinical cohort from the Netherlands Study of Depression and Anxiety (NESDA) (N = 1639). 25686805 2015
Mental Depression
CUI: C0011570
Disease: Mental Depression
0.050 GeneticVariation BEFREE To investigate the hypothesis that the MR sex-dependently influences the relation between childhood maltreatment and depression, we investigated three common and functional MR haplotypes (GA, CA, and CG haplotype, based on rs5522 and rs2070951) in a population-based cohort (N = 665) and an independent clinical cohort from the Netherlands Study of Depression and Anxiety (NESDA) (N = 1639). 25686805 2015