Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure
dc.contributor.author | Carstens N. | |
dc.contributor.author | Van Der Merwe L. | |
dc.contributor.author | Revera M. | |
dc.contributor.author | Heradien M. | |
dc.contributor.author | Goosen A. | |
dc.contributor.author | Brink P.A. | |
dc.contributor.author | Moolman-Smook J.C. | |
dc.date.accessioned | 2011-10-13T16:58:48Z | |
dc.date.available | 2011-10-13T16:58:48Z | |
dc.date.issued | 2011 | |
dc.description.abstract | Introduction. Hypertrophic cardiomyopathy (HCM), an inherited primary cardiac disorder mostly caused by defective sarcomeric proteins, serves as a model to investigate left ventricular hypertrophy (LVH). HCM manifests extreme variability in the degree and distribution of LVH, even in patients with the same causal mutation. Genes coding for renin-angiotensin-aldosterone system components have been studied as hypertrophy modifiers in HCM, with emphasis on the angiotensin (Ang) II type 1 receptor (AT1R). However, Ang II binding to Ang II type 2 receptors (AT2R) also has hypertrophy-modulating effects. Methods. We investigated the effect of the functional +1675 G/A polymorphism (rs1403543) and additional single nucleotide polymorphisms in the 3' untranslated region of the AT2R gene (AGTR2) on a heritable composite hypertrophy score in an HCM family cohort in which HCM founder mutations segregate. Results. We find significant association between rs1403543 and hypertrophy, with each A allele decreasing the average wall thickness by ∼0.5 mm, independent of the effects of the primary HCM causal mutation, blood pressure and other hypertrophy covariates (p = 0.020). Conclusion. This study therefore confirms a hypertrophy-modulating effect for AT2R also in HCM and implies that +1675 G/A could potentially be used in a panel of markers that profile a genetic predisposition to LVH in HCM. © 2010 The Author(s). | |
dc.description.version | Article | |
dc.identifier.citation | JRAAS - Journal of the Renin-Angiotensin-Aldosterone System | |
dc.identifier.citation | 12 | |
dc.identifier.citation | 3 | |
dc.identifier.citation | http://www.scopus.com/inward/record.url?eid=2-s2.0-80052379858&partnerID=40&md5=74c4c502aa87266e7e55742d66b9151b | |
dc.identifier.issn | 14703203 | |
dc.identifier.other | 10.1177/1470320310390725 | |
dc.identifier.uri | http://hdl.handle.net/10019.1/16865 | |
dc.subject | Angiotensin II type 2 receptor | |
dc.subject | cardiac hypertrophy | |
dc.subject | hypertrophic cardiomyopathy | |
dc.subject | renin-angiotensin-aldosterone system | |
dc.subject | alanine | |
dc.subject | angiotensin 2 receptor | |
dc.subject | glycine | |
dc.subject | 3' untranslated region | |
dc.subject | adult | |
dc.subject | allele | |
dc.subject | article | |
dc.subject | blood pressure | |
dc.subject | female | |
dc.subject | genetic marker | |
dc.subject | genetic predisposition | |
dc.subject | genetic variability | |
dc.subject | genotype | |
dc.subject | heart ventricle hypertrophy | |
dc.subject | human | |
dc.subject | hypertrophic cardiomyopathy | |
dc.subject | major clinical study | |
dc.subject | male | |
dc.subject | single nucleotide polymorphism | |
dc.subject | thickness | |
dc.title | Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure | |
dc.type | Article |