Renin-angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes

Mol Cell Biochem. 2017 Mar;427(1-2):1-11. doi: 10.1007/s11010-016-2891-y. Epub 2017 Jan 24.


The renin-angiotensin (RAS) pathway has an important role in the etiology of heart failure and given the importance of RAS as a therapeutic target in various cardiomyopathies, genetic polymorphisms in the RAS genes may modulate the risk and severity of disease in cardiomyopathy patients. In the present study, we examined the association of RAS pathway gene polymorphisms, angiotensin converting enzyme (ACE), angiotensinogen (AGT), and angiotensin receptor type 1 (AGTR1) with risk and disease severity in Asian Indian idiopathic cardiomyopathy patients. The case-control study was conducted in 400 cardiomyopathy patients diagnosed with HCM, DCM, or restrictive cardiomyopathy (RCM) and 235 healthy controls. Genotyping of patients and controls was done by PCR-RFLP assays. Left ventricular wall thickness and left ventricular ejection fraction were measured by means of M-mode echocardiography. We observed significantly higher prevalence of ACE DD and AGTR1 1166CC genotypes in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) patients. Also, 235TT genotype of AGT (M235T) was significantly associated with enhanced risk of the disease phenotype in HCM, DCM, and RCM.

Keywords: Angiotensinogen; Hypertrophy; Idiopathic cardiomyopathies; Modifier genes; Single nucleotide polymorphisms.

MeSH terms

  • Adult
  • Angiotensinogen / genetics*
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Restriction Fragment Length*
  • Receptor, Angiotensin, Type 1 / genetics*
  • Renin-Angiotensin System / genetics*


  • AGTR1 protein, human
  • Receptor, Angiotensin, Type 1
  • Angiotensinogen
  • ACE protein, human
  • Peptidyl-Dipeptidase A