Angiotensin-converting enzyme gene polymorphism in Japanese patients with hypertrophic cardiomyopathy

Yoneya, Keiji; Okamoto, Hiroshi; Machida, Maiko; Onozuka, Hisao; Noguchi, Makiko; Mikami, Taisei; Kawaguchi, Hideaki; Murakami, Masaaki; Uede, Toshimitsu; Kitabatake, Akira

doi:10.1016/0002-8703(95)90213-9

Cited by 64 publications

(39 citation statements)

References 22 publications

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“…The variability of the phenotypic expression of LVH in patients with HCM indicates a potential role for additional modifying genes . [1][2][3][4][5][6][7][8] In the RAS, angiotensinogen is cleaved by renin to produce the inactive peptide angiotensin L9> The ACE then converts angiotensin I to angiotensin II; the latter peptide has various effects including vasoconstriction, aldosterone production, and enhanced noradrenalin release from sympathetic nerve endings. Angiotensin II also has hypertrophic, and possibly hyperplastic, effects on vascular smooth muscle cells and cardiomyocytes,2> and increases extracellular collagen matrix synthesis.…”

Section: Discussionmentioning

confidence: 99%

Angiotensin II Type 1 Receptor Gene Polymorphisms in Patients with Cardiac Hypertrophy.

et al. 1998

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Section: Discussionmentioning

confidence: 99%

Angiotensin II Type 1 Receptor Gene Polymorphisms in Patients with Cardiac Hypertrophy.

et al. 1998

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“…Several genes including those encoding the components of the renin-angiotensin-aldosterone system (RAAS) have emerged as the potential modifiers. 5 The angiotensin-converting enzyme (ACE) gene is localized on chromosome 17q23 and is characterized by a major insertion/deletion (I/D) polymorphism consisting of the presence or absence of a 287-base-pair Alu repeat sequence within intron 16. 6 ACE is an ectoenzyme found on the external surface of the endothelial and epithelial 7 Moreover, the increased free radical generation by Ang II contributes to endothelial dysfunction.…”

Section: Introductionmentioning

confidence: 99%

“…6 Studies from different populations have shown conflicting data; the results have been inconsistent and inconclusive, with a few studies reporting association [8][9][10] whereas others have shown no association between ACE gene I/D polymorphism and CM. 5,11 In the present study, we have examined the prevalence of ACE I/D polymorphism in Tunisian DCM patients and assessed the association of ACE I/D genotypes with clinical phenotype.…”

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confidence: 99%

Association of ACE I/D polymorphism in Tunisian patients with dilated cardiomyopathy

Mahjoub¹,

Mehri

Bousaada

et al. 2010

J Renin Angiotensin Aldosterone Syst

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Primary cardiomyopathies are multifactorial diseases. Genetic factors other than the causal mutations in the modified genes affect the phenotypic expression of dilated cardiomyopathy. The aim of this study was to determine the association of angiotensinconverting enzyme I/D polymorphism with the risk of dilated cardiomyopathy in a Tunisian population. A total of 76 patients with dilated cardiomyopathy was compared to 151 ethnically, age-and gender-matched controls. The frequencies of the DD genotype and D allele were significantly higher in patients as compared with controls, and were associated with increased risk of dilated cardiomyopathy (ACE DD versus ID and II: OR = 3.05 (95% CI, 1.58-5.87; p = 0.001)); D versus I: OR = 2 (95% CI: 1.35-2.97; p = 0.001)). No association was found between the combined genotypes (DD+ID) or D allele and left ventricular end diastolic diameter in dilated cardiomyopathy patients with severe and moderate clinical phenotypes. DD genotype and D allele of angiotensin-converting enzyme I/D gene polymorphism are associated with increased risk of dilated cardiomyopathy in a Tunisian population but do not influence the cardiac phenotype severity.

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“…18 According to some 19 -21 but not all 22,23 studies, the frequency of the D allele is higher in patients with HCM. Moreover, the extent of hypertrophy in subjects with HCM is influenced by the ACE I/D polymorphism, 20,22,23 suggesting that Ang II may modify the phenotypic expression of hypertrophy in HCM. The latter association may depend on the underlying gene mutation, since it was found only in subjects with mutations in the Arg 403 codon of the ␤-myosin heavy chain gene.…”

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AT ₁ Receptor A/C ¹¹⁶⁶ Polymorphism Contributes to Cardiac Hypertrophy in Subjects With Hypertrophic Cardiomyopathy

et al. 1998

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Abstract-The development of left ventricular hypertrophy (LVH) in subjects with hypertrophic cardiomyopathy (HCM) is variable, suggesting a role for modifying factors such as angiotensin II. We investigated whether the angiotensin II type 1 receptor (AT 1 -R) A/C 1166 polymorphism, the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism, and/or plasma renin influence LVH in HCM. Left ventricular mass index (LVMI) and interventricular septal thickness were determined by 2-dimensional echocardiography in 104 genetically independent subjects with HCM. Extent of hypertrophy was quantified by a point score (Wigle score). Plasma prorenin, renin, and ACE were measured by immunoradiometric or fluorometric assays, and ACE and AT 1 -R genotyping were performed by polymerase chain reactions. The ACE D allele did not affect any of the measured parameters except plasma ACE (PϽ0.04). LVMI was higher (PϽ0.05) in patients carrying the AT 1 -R C allele (190Ϯ8.3 g/m 2 ) than in AA homozygotes (168Ϯ7.2 g/m 2 ), and similar patterns were observed for interventricular septal thickness (23.0Ϯ0.7 versus 21.6Ϯ0.7 mm) and Wigle score (7.0Ϯ0.3 versus 6.3Ϯ0.3). Plasma renin was higher (Pϭ0.05) in carriers of the C allele than in AA homozygotes. Multivariate regression analysis, however, revealed no independent role for renin in the prediction of LVMI. Plasma prorenin and ACE were not affected by the AT 1 -R A/C 1166 polymorphism, nor did the ACE and AT 1 -R polymorphisms interact with regard to any of the measured parameters. We conclude that the AT 1 -R C

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Angiotensin-converting enzyme gene polymorphism in Japanese patients with hypertrophic cardiomyopathy

Cited by 64 publications

References 22 publications

Angiotensin II Type 1 Receptor Gene Polymorphisms in Patients with Cardiac Hypertrophy.

Angiotensin II Type 1 Receptor Gene Polymorphisms in Patients with Cardiac Hypertrophy.

Association of ACE I/D polymorphism in Tunisian patients with dilated cardiomyopathy

AT ₁ Receptor A/C ¹¹⁶⁶ Polymorphism Contributes to Cardiac Hypertrophy in Subjects With Hypertrophic Cardiomyopathy

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Angiotensin-converting enzyme gene polymorphism in Japanese patients with hypertrophic cardiomyopathy

Cited by 64 publications

References 22 publications

Angiotensin II Type 1 Receptor Gene Polymorphisms in Patients with Cardiac Hypertrophy.

Angiotensin II Type 1 Receptor Gene Polymorphisms in Patients with Cardiac Hypertrophy.

Association of ACE I/D polymorphism in Tunisian patients with dilated cardiomyopathy

AT 1 Receptor A/C 1166 Polymorphism Contributes to Cardiac Hypertrophy in Subjects With Hypertrophic Cardiomyopathy

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AT ₁ Receptor A/C ¹¹⁶⁶ Polymorphism Contributes to Cardiac Hypertrophy in Subjects With Hypertrophic Cardiomyopathy