The present study aims to assess the association of PDE4D gene polymorphisms (SNP83 and SNP87) with Coronary Heart Disease (CHD) in a single Mendelian population of Delhi.Methods
A cross-sectional study was carried out wherein intravenous blood samples were collected from 100 cases and 100 age, sex and ethnicity matched controls along with their demographic, life style, and clinical profiles.Results
Genotypic frequencies of PDE4D gene variants 83 and 87 did not differ significantly between cases and controls. Odds ratio revealed a 1.4-fold increased risk with PDE4D 83 C allele; though not significant. Both the SNPs showed significant association with serum triglyceride (TG) (P ≤ 0.05). A significant linkage disequilibrium was observed between the SNPs. The haplotype with mutant alleles of the two SNPs showed fivefold increased risk (though not significant) and that with normal allele of SNP 83 and mutant allele of SNP 87 (T-T) was found to be significantly associated with the disease in the present population.Conclusions
PDE4D gene variants 83 and 87 did not show any significant association with CHD. However, their interaction with TG and the haplotypic association found in the present population is indicative of the population-specific risk associated with CHD where majority of the individuals have high cholesterol and high Body Mass Index (BMI).