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

Mol Cell Biochem. 2008 Apr;311(1-2):67-72. doi: 10.1007/s11010-007-9695-z. Epub 2007 Dec 30.


Aim: The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM).

Methods and results: A total of 174 patients diagnosed with cardiomyopathy (118 with HCM, 51 with DCM, and 5 with RCM) and 164 ethnically, age- and gender-matched controls were included in the study. ACE I/D genotyping was performed by PCR. In total, 25.86% of the patients were in New York Heart Association (NYHA) class III and IV at presentation. A total of 67.24% patients had dyspnea, 56.89% had angina pectoris, and 25.28% of the patients had at least one event of syncope. Frequency of occurrence of the disease was more in male patients compared to female patients (P < 0.05). After adjustment for age, sex, body mass index (BMI), and smoking habit, the prevalence of ACE DD genotype, and ACE 'D' allele was significantly higher in patients as compared to controls and was associated with increased risk (DD: OR 2.11, 95% CI 1.27-3.52, P < 0.05; 'D': OR 1.91, 95% CI 1.08-3.35, P < 0.05). The mean septal thickness was higher for DD and ID genotypes (20.40 +/- 3.73 mm and 21.82 +/- 5.35 mm, respectively) when compared with II genotype (18.63 +/- 6.69 mm) in HCM patients, however, the differences were not significant statistically (P > 0.05). The DCM patients with ID genotype showed significantly decreased left ventricular ejection fraction (LVEF) at enrolment (26.50 +/- 8.04%) (P = 0.04).

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

MeSH terms

  • Adult
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / enzymology*
  • Cardiomyopathies / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • India
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Racial Groups* / genetics
  • Renin / genetics*
  • Risk Factors


  • Renin