RGD Reference Report - An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy. - Rat Genome Database

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An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy.

Authors: Tiago, AD  Badenhorst, D  Skudicky, D  Woodiwiss, AJ  Candy, GP  Brooksbank, R  Sliwa, K  Sareli, P  Norton, GR 
Citation: Tiago AD, etal., Cardiovasc Res. 2002 Jun;54(3):584-9.
RGD ID: 1576426
Pubmed: PMID:12031704   (View Abstract at PubMed)

OBJECTIVE: To assess whether renin-angiotensin-aldosterone (RAA) system gene polymorphisms shown to be associated with alterations in the activity of the system, may predict cardiac function changes subsequent to initiating medical therapy in heart failure. METHODS: The impact of RAA system genotypes on left ventricular ejection fraction (LVEF) following therapy to patients with idiopathic dilated cardiomyopathy (IDC) and class II-III heart failure was assessed. In 107 patients LVEF and LV dimensions were determined using radionuclide ventriculography and echocardiography prior to and subsequent to receiving furosemide, digoxin and angiotensin-converting enzyme (ACE) inhibitor therapy. Patients and controls were genotyped for variants of the ACE (insertion-deletion polymorphism), angiotensinogen (AGT; M235T polymorphism) and the aldosterone synthase (CYP11B2, C-344T polymorphism) genes. RESULTS: RAA system genotypes were not significantly associated with LVEF prior to initiating medical therapy. However, the CYP11B2 gene variant (P=0.0064 on covariate analysis [adjusted for multiple genotyping] with a 1-2% chance of false positive data), but neither the ACE, nor the AGT variants, predicted improvement in LV ejection fraction in patients on medical therapy. CONCLUSION: A CYP11B2 gene variant predicts the variable improvement in LV ejection fraction that occurs subsequent to initiating medical therapy in IDC. These data suggest a role for the aldosterone synthase locus in regulating the progression of heart failure.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP11B2Humandilated cardiomyopathy 1H treatmentIAGP DNA:SNP:promoter:-344C>T (human)RGD 
Cyp11b1Mousedilated cardiomyopathy 1H treatmentISOCYP11B2 (Homo sapiens)DNA:SNP:promoter:-344C>T (human)RGD 
Cyp11b3Ratdilated cardiomyopathy 1H treatmentISOCYP11B2 (Homo sapiens)DNA:SNP:promoter:-344C>T (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP11B2HumanReduced left ventricular ejection fraction treatmentIAGP  RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cyp11b3  (cytochrome P450, family 11, subfamily b, polypeptide 3)

Genes (Mus musculus)
Cyp11b1  (cytochrome P450, family 11, subfamily b, polypeptide 1)

Genes (Homo sapiens)
CYP11B2  (cytochrome P450 family 11 subfamily B member 2)


Additional Information