Javeed Ahmad Tantray , Karnati Pratap Reddy , Kaiser Jamil *, Waseem Gul Lone and Shiva Kumar Yerra Pages 147 - 153 ( 7 )
Background: The role of Apolipoprotein-E (APO-E) in lipid metabolism and cholesterol transport is a key component of lipid metabolism which plays a role in diseases like hypercholesterolemia, diabetes, and cardiovascular disease. The aim of this study was to determine the genotypes, allelic frequencies, gene expression and methylation related to apolipoprotein E polymorphism in Coronary Artery Disease (CAD) patients and compare with non-CAD healthy subjects of South Indian population.
Methods: The APO-E alleles and genotypes were determined by PCR-RFLP. Gene expression profiles for E3/E3 genotypes were determined using RT-PCR and methylation status was determined using Methyl Specific PCR assay in one hundred patients and an equal number of controls.
Results: Four APO-E genotypes (E4/E4, E3/E3, E3/E4, and E2/E3) were identified with different allele frequency. Among these, E3/E3 genotype and E3 allele were found to be significantly higher in cases than controls. The present study showed that the mRNA expression of APO-E was up-regulated in CAD patients with E3/E3 genotype in comparison with controls. Methylation status indicated a significant association of E3/E3 genotypes with the disease.
Conclusion: Different populations studied worldwide showed inherent variable frequencies of the APO-E alleles and genotypes, with the most frequent allele being E3. In this study, the APO-E genotypes E2/E3/E4 showed variable response to CAD, further, there was a significant association of E3/E3 genotypes to CAD risk; this genotype can be suggested for the diagnosis of CAD.
Apolipoprotein-E, genotypes, alleles, gene expression, methylation, polymorphism, Coronary Artery Disease (CAD).
Department of Zoology, Osmania University Hyderabad, Telangana, Department of Zoology, Osmania University Hyderabad, Telangana, Department of Genetics, Bhagwan Mahavir Medical Research Centre, 10-1-1, Mahavir Marg, Hyderabad-500004, Telangana, Department of Pathology and Microbiology, University of Nebraska Medical Centre, Omaha, Nebraska, Department of Cardiology, Mahavir Hospital and Research Centre Hyderabad (Telangana)