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Genotype-phenotype associations between chymase and angiotensin-converting enzyme gene polymorphisms in chronic

Ruthie E Amir1, Offer Amir, Hagar Paz

  • 1Department of Genetics and Molecular Biology, Zinman College of Physical Education and Sport Sciences at the Wingate Institute, Netanya, Israel. ruthiea@wincol.ac.il

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 22, 2008
PubMed

Insights

Chymase-1 gene variations in heart failure patients are linked to non-ischemic causes and reduced left ventricular function. Angiotensin-converting enzyme gene variations showed no impact on systolic heart failure.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Angiotensin II is key in heart failure myocardial remodeling.
  • Two main pathways generate Angiotensin II: angiotensin-converting enzyme and chymase.
  • Understanding genetic influences on heart failure is crucial for treatment.

Purpose of the Study:

  • Investigate angiotensin-converting enzyme (ACE) and chymase-1 gene polymorphisms in systolic heart failure patients.
  • Correlate these polymorphisms with clinical status and left ventricular function.

Main Methods:

  • Genotyped 195 heart failure patients with ejection fraction <40% for ACE (I/D) and chymase-1 (-1903G/A) polymorphisms.
  • Analyzed heart failure etiology and clinical manifestations against genotype subtypes.

Main Results:

  • The chymase-1 -1903 GG genotype was significantly associated with non-ischemic heart failure etiology (OR 2.48, P=0.009).
  • Patients with the chymase-1 GG genotype exhibited lower ejection fraction (P=0.005).
  • No significant impact of the angiotensin-converting enzyme D allele on systolic heart failure phenotype was observed.

Conclusions:

  • Chymase-1 polymorphism is associated with non-ischemic etiology in chronic systolic heart failure.
  • Homozygosity for the chymase-1 G allele correlates with significantly impaired systolic left ventricular function.
Abstract

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