Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death

@article{Marian1993AngiotensinconvertingEP,
  title={Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death},
  author={Ali J. Marian and Q-t Yu and Robert Workman and Gottfried Greve and Robert Roberts},
  journal={The Lancet},
  year={1993},
  volume={342},
  pages={1085-1086}
}
Renin–angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes
TLDR
Genetic polymorphisms in the RAS genes may modulate the risk and severity of disease in cardiomyopathy patients, and 235TT genotype of AGT (M235T) was significantly associated with enhanced risk of the disease phenotype in HCM, DCM, and RCM.
ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy
TLDR
It is suggested that D allele of ACE I/D polymorphism significantly influences the HCM and DCM phenotypes.
Different frequencies of angiotensin-converting enzyme genotypes in older hypertensive individuals.
TLDR
In a group of severely HT patients not selected for cardiac pathology, there appeared to be a marked, selective decrease, in subgroups of increasing age, in frequency of the ACE DD genotype, suggesting that DD increases risk of premature death, at least in HTs who have two HT parents.
High incidence of angiotensin I converting enzyme genotype II in Kawasaki disease patients with coronary aneurysm
TLDR
Patients with Kawasaki disease and coronary aneurysm more often than expected had the genotype II suggesting that reactions induced by the type of ACE polymorphism predispose to coronary anuerysm formation.
Angiotensin-converting enzyme in the human heart. Effect of the deletion/insertion polymorphism.
TLDR
Elevated cardiac ACE activity in subjects who died of noncardiac disorders may result in increased cardiac angiotensin II levels, and this may be a mechanism underlying the reported association between the ACE deletion polymorphism and the increased risk for several cardiovascular disorders.
Association of angiotensin-converting enzyme activity and polymorphism with echocardiographic measures in familial and nonfamilial hypertrophic cardiomyopathy.
  • P. Buck, F. Fernandes, C. Mady
  • Medicine, Biology
    Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
  • 2009
TLDR
ACE activity, but not ACE polymorphisms, was associated with the degree of myocardial hypertrophy in the patients with HCM.
Lack of association between angiotensin-converting enzyme gene polymorphism and coronary heart disease in a Chinese population.
TLDR
The deletion polymorphism of the ACE gene may not be an independent risk factor in the development of CAD or myocardial infarction in this Chinese population.
...
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References

SHOWING 1-7 OF 7 REFERENCES
An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels.
TLDR
The insertion/deletion polymorphism accounted for 47% of the total phenotypic variance of serum ACE, showing that the ACE gene locus is the major locus that determines serum ACE concentration.
Localization of Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14ql in a Diverse US Population
TLDR
The results indicate that the loci for familial hypertrophic cardiomyopathy in families is primarily 14ql but does not exclude other loci in a small proportion of the families, and 14ql appears to be the locus for familial hypertension in a significantportion of the US population.
Distribution and Functional Significance of Cardiac Angiotensin Converting Enzyme in Hypertrophied Rat Hearts
TLDR
The data suggest that an increase in endothelial cell volume per se cannot alone account for the observed doubling of ACE density and support an upregulation of ACE production in hypertrophied tissue.
Differences in Clinical Expression of Hypertrophic Cardiomyopathy Associated With Two Distinct Mutations in the β‐Myosin Heavy Chain Gene: A 908Leu→Val Mutation and a 403Arg→gGln Mutation
TLDR
In some kindreds, the HCM disease gene is more prevalent than indicated by echocardiography and ECG, and some point mutations may be associated with a more malignant prognosis.
Induction of platelet-derived growth factor A-chain and c-myc gene expressions by angiotensin II in cultured rat vascular smooth muscle cells.
TLDR
Exposure of RASM cells to Ang II results in the sequential activation of c-myc and PDGF A-chain mRNA expressions, which may be an important mechanism in angiotensin-induced smooth muscle growth and hypertrophy.
The mas oncogene encodes an angiotensin receptor
TLDR
Results demonstrate that the mas gene product is a functional angiotensin receptor, and shows the greatest sequence similarity to the substance-K receptor.