Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure

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dc.contributor.authorCarstens N.
dc.contributor.authorVan Der Merwe L.
dc.contributor.authorRevera M.
dc.contributor.authorHeradien M.
dc.contributor.authorGoosen A.
dc.contributor.authorBrink P.A.
dc.contributor.authorMoolman-Smook J.C.
dc.date.accessioned2011-10-13T16:58:48Z
dc.date.available2011-10-13T16:58:48Z
dc.date.issued2011
dc.description.abstractIntroduction. 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.versionArticle
dc.identifier.citationJRAAS - Journal of the Renin-Angiotensin-Aldosterone System
dc.identifier.citation12
dc.identifier.citation3
dc.identifier.citationhttp://www.scopus.com/inward/record.url?eid=2-s2.0-80052379858&partnerID=40&md5=74c4c502aa87266e7e55742d66b9151b
dc.identifier.issn14703203
dc.identifier.other10.1177/1470320310390725
dc.identifier.urihttp://hdl.handle.net/10019.1/16865
dc.subjectAngiotensin II type 2 receptor
dc.subjectcardiac hypertrophy
dc.subjecthypertrophic cardiomyopathy
dc.subjectrenin-angiotensin-aldosterone system
dc.subjectalanine
dc.subjectangiotensin 2 receptor
dc.subjectglycine
dc.subject3' untranslated region
dc.subjectadult
dc.subjectallele
dc.subjectarticle
dc.subjectblood pressure
dc.subjectfemale
dc.subjectgenetic marker
dc.subjectgenetic predisposition
dc.subjectgenetic variability
dc.subjectgenotype
dc.subjectheart ventricle hypertrophy
dc.subjecthuman
dc.subjecthypertrophic cardiomyopathy
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectsingle nucleotide polymorphism
dc.subjectthickness
dc.titleGenetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure
dc.typeArticle
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