RGD Reference Report - Associations between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass, and function. - Rat Genome Database

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Associations between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass, and function.

Authors: Kupari, M  Hautanen, A  Lankinen, L  Koskinen, P  Virolainen, J  Nikkila, H  White, PC 
Citation: Kupari M, etal., Circulation. 1998 Feb 17;97(6):569-75.
RGD ID: 4891150
Pubmed: PMID:9494027   (View Abstract at PubMed)

BACKGROUND: Aldosterone has direct and indirect effects on the heart, and genetic variations in aldosterone synthesis could therefore influence cardiac structure and function. Such variations might be associated with polymorphisms in the gene encoding aldosterone synthase (CYP11B2), the enzyme catalyzing the last steps of aldosterone biosynthesis. METHODS AND RESULTS: A Finnish population sample of 84 persons (44 women) aged 36 to 37 years was studied by M-mode and Doppler echocardiography to assess left ventricular size, mass, and function. Subjects were genotyped through the use of the polymerase chain reaction for two diallelic polymorphisms in CYP11B2: one in the transcriptional regulatory region (promoter) and the other in the second intron. In multiple regression analyses, the CYP11B2 promoter genotype predicted statistically significant variations in left ventricular end-diastolic diameter (beta=.40, P<.0001), end-systolic diameter (beta=.33, P=.0009), and mass (beta=.17, P=.023). These effects were independent of potentially confounding factors, including sex, body size, blood pressure, physical activity, smoking, and ethanol consumption. Genotype groups also differed in a measure of left ventricular diastolic function, the heart rate-adjusted atrial filling fraction (P=.018). Increased dietary salt, which is known to predict increased left ventricular mass, had this effect only in association with certain CYP11B2 genotypes (P<.001). CONCLUSIONS: Genetic variations in or near the aldosterone synthase (CYP11B2) gene strongly affect left ventricular size and mass in young adults free of clinical heart disease. These polymorphisms may also influence the response of the left ventricle to increases in dietary salt.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP11B2HumanLeft Ventricular Hypertrophy  IAGP DNA:transition:5' utr:-344C>T (human)RGD 
Cyp11b2RatLeft Ventricular Hypertrophy  ISOCYP11B2 (Homo sapiens)DNA:transition:5' utr:-344C>T (human)RGD 
Cyp11b2MouseLeft Ventricular Hypertrophy  ISOCYP11B2 (Homo sapiens)DNA:transition:5' utr:-344C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp11b2  (cytochrome P450, family 11, subfamily b, polypeptide 2)

Genes (Mus musculus)
Cyp11b2  (cytochrome P450, family 11, subfamily b, polypeptide 2)

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


Additional Information