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PDE4D gene polymorphisms and coronary heart disease: a case-control study in a north Indian population

Ekata Sinha1, Sanjenbam Yaiphaba Meitei, Priyanka Rani Garg

  • 1Department of Anthropology, Biochemical and Molecular Anthropology Laboratory, University of Delhi (North Campus), Delhi, India.

Journal of Clinical Laboratory Analysis
|July 16, 2013
PubMed

Insights

Phosphodiesterase 4D (PDE4D) gene variants (SNP83 and SNP87) showed no significant association with Coronary Heart Disease (CHD) in a Delhi population. However, interactions with triglycerides suggest population-specific risks for CHD.

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology
  • Pharmacogenomics

Background:

  • Coronary Heart Disease (CHD) is a significant global health concern.
  • Genetic factors, including phosphodiesterase 4D (PDE4D) gene polymorphisms, are investigated for their role in CHD susceptibility.
  • Understanding population-specific genetic associations is crucial for targeted prevention strategies.

Purpose of the Study:

  • To investigate the association between PDE4D gene polymorphisms (SNP83 and SNP87) and Coronary Heart Disease (CHD) risk.
  • To analyze the relationship between these genetic variants, serum triglyceride levels, and CHD in a Mendelian population of Delhi.
  • To explore potential haplotypic associations and population-specific risk factors for CHD.

Main Methods:

  • A cross-sectional study involving 100 CHD cases and 100 matched controls from Delhi.
  • Collection of demographic, lifestyle, and clinical data alongside intravenous blood samples.
  • Genotyping of PDE4D gene variants (SNP83 and SNP87) and analysis of genotypic frequencies and linkage disequilibrium.

Main Results:

  • No significant difference in genotypic frequencies of PDE4D variants (SNP83 and SNP87) between CHD cases and controls.
  • A 1.4-fold increased risk for the PDE4D 83 C allele was observed, though not statistically significant.
  • Significant association found between both SNPs and serum triglyceride levels (P ≤ 0.05).
  • Significant linkage disequilibrium between the SNPs was detected.
  • A specific haplotype (SNP 83 normal allele, SNP 87 mutant allele T-T) showed significant association with CHD.

Conclusions:

  • PDE4D gene variants (SNP83 and SNP87) did not demonstrate a significant direct association with CHD in this population.
  • The observed interaction with serum triglycerides and significant haplotypic association suggest a potential population-specific risk for CHD.
  • High cholesterol and high Body Mass Index (BMI) prevalent in this population may influence the role of PDE4D variants in CHD development.
Abstract

Keywords:
Coronary Heart Disease (CHD)North Indian Mendelian PopulationPDE4D gene polymorphismshaplotype

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