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ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies

Amit Kumar1, Bindu Rani1, Rajni Sharma2

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

Molecular and Cellular Biochemistry
|July 27, 2017
PubMed

Insights

Genetic variations in ACE2, TNNI3K, and CALM3 influence hypertrophic (HCM) and dilated cardiomyopathies (DCM) risk and severity. These single nucleotide polymorphisms (SNPs) act as disease modifiers in North Indian populations.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) exhibit significant clinical and genetic heterogeneity.
  • This heterogeneity suggests the influence of genetic modifiers and environmental factors in disease development.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in ACE2, TNNI3K, and CALM3 genes and the clinical phenotypes of HCM and DCM patients.
  • To identify potential genetic disease modifiers in North Indian populations.

Main Methods:

  • Genotyping of ACE2 (rs6632677), TNNI3K (rs49812611), and CALM3 (rs13477425) in North Indian patients with HCM and DCM and control subjects.
  • Analysis of genotype prevalence and correlation with clinical parameters like left ventricular ejection fraction (LVEF) and septal thickness.
  • Assessment of gene-gene interactions and their combined effect on disease risk.

Main Results:

  • ACE2 variant genotypes were more prevalent in DCM patients compared to controls.
  • TNNI3K and CALM3 variant homozygous genotypes were significantly higher in both HCM and DCM patients.
  • DCM patients with a specific ACE2 genotype showed reduced LVEF. A significant gene-gene interaction was observed, increasing HCM and DCM risk.
  • ACE2 and CALM3 variants correlated with increased septal thickness in HCM patients with mutations.

Conclusions:

  • ACE2, TNNI3K, and CALM3 gene polymorphisms are associated with an increased risk of developing HCM and DCM.
  • These genetic variants may function as disease modifiers, influencing the clinical presentation and severity of cardiomyopathies.

Keywords:
ACE2CALM3Hypertrophy modifier genesIdiopathic cardiomyopathiesSingle nucleotide polymorphismsTNNI3K

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