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

Bindu Rani1, Amit Kumar1, Ajay Bahl2

  • 1Department of Experimental Medicine and Biotechnology, PGIMER, Lab No 2009, Research Block B, Chandigarh, 160012, India.

Molecular and Cellular Biochemistry
|January 26, 2017
PubMed

Insights

Genetic variations in the renin-angiotensin system (RAS) pathway, including angiotensin converting enzyme (ACE), angiotensinogen (AGT), and angiotensin receptor type 1 (AGTR1), are linked to increased risk and severity in Asian Indian cardiomyopathy patients.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetics of Heart Disease

Background:

  • The renin-angiotensin system (RAS) is crucial in heart failure development and a key therapeutic target.
  • Genetic polymorphisms within RAS genes may influence cardiomyopathy risk and disease progression.

Purpose of the Study:

  • To investigate the association between RAS gene polymorphisms (ACE, AGT, AGTR1) and the risk/severity of idiopathic cardiomyopathy in Asian Indians.
  • To analyze specific genotypes and their correlation with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM).

Main Methods:

  • A case-control study involving 400 cardiomyopathy patients (HCM, DCM, RCM) and 235 healthy controls.
  • Genotyping performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assays.
  • Echocardiography used to assess left ventricular wall thickness and ejection fraction.

Main Results:

  • Significantly higher prevalence of ACE DD and AGTR1 1166CC genotypes observed in HCM and DCM patients.
  • The AGT 235TT genotype (M235T) showed a significant association with increased disease risk across HCM, DCM, and RCM phenotypes.

Conclusions:

  • Specific RAS gene polymorphisms, including ACE DD, AGTR1 1166CC, and AGT 235TT, are associated with increased risk and potentially disease severity in Asian Indian patients with idiopathic cardiomyopathies.
  • These findings highlight the role of genetic variations in the renin-angiotensin system in the pathogenesis of various forms of cardiomyopathy.
Keywords:
AngiotensinogenHypertrophyIdiopathic cardiomyopathiesModifier genesSingle nucleotide polymorphisms

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