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

Taranjit Singh Rai1, Perundurai Subramaniam Dhandapany, Tarunveer Singh Ahluwalia

  • 1Department of Experimental Medicine and Biotechnology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India.

Molecular and Cellular Biochemistry
|January 1, 2008
PubMed

Insights

The angiotensin converting enzyme (ACE) D allele is linked to a higher risk of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). This genetic variant influences disease phenotypes in patients with these heart conditions.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Cardiomyopathies, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM), represent significant cardiovascular diseases.
  • The angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism is a potential genetic risk factor for various cardiovascular conditions.

Purpose of the Study:

  • To investigate the association between the ACE I/D polymorphism and the risk of developing HCM, DCM, and RCM.
  • To explore the influence of ACE I/D genotypes on clinical phenotypes and disease severity in cardiomyopathy patients.

Main Methods:

  • Case-control study including 174 cardiomyopathy patients (118 HCM, 51 DCM, 5 RCM) and 164 matched controls.
  • ACE I/D genotyping performed using polymerase chain reaction (PCR).
  • Statistical analysis adjusted for age, sex, body mass index (BMI), and smoking habit.

Main Results:

  • The ACE DD genotype and 'D' allele were significantly more prevalent in cardiomyopathy patients compared to controls, indicating an increased risk (DD: OR 2.11; 'D' allele: OR 1.91).
  • Male patients exhibited a higher frequency of cardiomyopathy compared to female patients (P < 0.05).
  • In DCM patients, the ID genotype was associated with a significantly reduced left ventricular ejection fraction (LVEF) at enrollment (26.50 +/- 8.04%, P = 0.04).

Conclusions:

  • The 'D' allele of the ACE I/D polymorphism is a significant genetic factor associated with an increased risk and specific phenotypes of HCM and DCM.
  • ACE I/D polymorphism may play a role in the pathogenesis and clinical presentation of these cardiomyopathies.
Abstract

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