ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy

Abstract

Our results suggest that D allele of ACE I/D polymorphism significantly influences the HCM and DCM phenotypes.

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

“…Genetic, epigenetic and environmental factors could influence disease expression and mutation penetrance. Similarly to that observed in hypertrophic cardiomyopathy, 32 dilated cardiomyopathy 33 and long-QT syndrome, 34 we can speculate that common sequence variants, modifying the effects of the primary mutation, may influence penetrance and phenotypic manifestations in this family. Moreover, allelic asymmetries, as allele-specific gene expression, allele-specific DNA methylation and allele-specific transcription factor binding, could influence the expression ratio of the two alleles.…”

Role of Modifying Genes on the Severity of Rare Mutation of MYH7 Gene in Hypertrophic Obstructive Cardiomyopathy

“…5bp deletion polymorphism in intron 3 of TNNT2 gene was also analyzed by RFLP method using Ear I enzyme and genotyped in 8% Polyacrylamide gel ( Figure 1B). 287bp Deletion polymorphism of Angiotensin Converting Enzyme (ACE) gene in the intron16 [9] and 25bp Deletion Polymorphism in Cardiac Myosin Binding Protein C (MYBPC3) gene in the intron 32 [10] were analyzed directly by genotyping the PCR product on 2% ( Figure 1C) and 3% Agarose gel respectively. To validate MYH7 (CT at codon 923) mutation, 20 HCM families including 21 affected and 46 unaffected family members were screened for exon 23 of MYH7 gene by Sanger sequencing.…”

Role of Modifier Genes in Idiopathic Cardiomyopathies

“…An insertion or deletion of a 287bp DNA fragment in the ACE gene (ACEI/D) has been found to be an important modifier which may influence the clinical phenotype in cardiomyopathies. ACE I/D polymorphism has been shown to be associated with left ventricular hypertrophy (LVH) in untreated hypertension, complications of atherosclerosis (35) and HCM (36)(37)(38)(39)(40). D allele was shown to be associated with increased risk of cardiomyopathy in Asian Indians; HCM patients with DD genotype were found to be more susceptible to disease (38).…”

“…ACE I/D polymorphism has been shown to be associated with left ventricular hypertrophy (LVH) in untreated hypertension, complications of atherosclerosis (35) and HCM (36)(37)(38)(39)(40). D allele was shown to be associated with increased risk of cardiomyopathy in Asian Indians; HCM patients with DD genotype were found to be more susceptible to disease (38). D allele carrying genotypes (DD, ID) were also found to be associated with higher mean septal thickness as compared to II genotype in HCM patients, however, the difference was not significant (P>0.05).…”

“…DCM patients with ID genotype also showed significantly decreased left ventricular ejection fraction (LVEF) indicating a possible association of D allele in pathogenesis of DCM. It has been suggested that DD genotype may be an important biomarker of HCM and presence of the ACE gene I/D polymorphism may be an important marker to identify those individuals with HCM who are likely to have more progressive disease, and therefore at higher risk of adverse clinical outcomes (38,39). DD-ACE is considered a 'pro-LVH' modifier in HCM (41).…”