The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation.

摘要: Familial hypertrophic cardiomyopathy is an autosomal dominant genetically heterogeneous disease characterized by a partial penetrance and variable expressivity. Previous studies showed that the extent of hypertrophy influenced angiotensin I converting enzyme insertion/deletion (I/D) polymorphism. Recently, molecular genetic analysis revealed existence healthy carriers as many quarter affected individuals do not express disease. This data prompted us to re-investigate role polymorphism on assessing both clinically carriers. For this, several families with mutations in cardiac myosin binding protein C or theβ-myosin heavy chain genes were analysed. The mean maximal intraventricular septum thickness was compared function genotypes all (n=114), subsets subjects carrying either splice acceptor site mutation gene (n=33), various missense cardiacβ-myosin (n=81) finally, Arg403 codon (n=54). Significant association between D allele observed only case (mean for DD genotype: 19.3±2.7 mm; ID 13.4±1.3 mm II 11.0±0.9 mm;P<0.02). These results confirmed theχ2test showing over-representation genotype patients associated septal (P<0.05). Our confirms can influence phenotypic expression shows this depends mutation, raising concept multiple modifiers familial cardiomyopathy.