Genetic study of peroxisome proliferator-activated receptor gamma gene polymorphism in acute coronary syndrome

Abstract

Introduction: The myocardial ischemia, manifestation includes unstable angina, non-ST segment elevation and ST- segment elevation myocardial infarction, are together referred to as acute coronary syndrome(ACS). Numerous genetic and environmental variables influence atherosclerosis, which contributes to the development of coronary heart disease. Peroxisome Proliferator-Activated Receptors control the metabolism of fats and carbohydrates. Alpha, beta/delta, and gamma are the three proteins that make up the PPAR family.A nuclear transcription factor called peroxisome proliferator-activated receptor-gamma (PPAR gamma) is involved in energy regulation as well as glucose and lipid balance. The PPAR gamma gene, which is found on chromosome 3p25, uses alternative splicing and promoter use to produce four distinct PPARγmRNAs. It is found that PPAR gamma C161T genes polymorphism were linked to an increasing risk of ACS.

Aim: The purpose of this study is to investigate the role of the gene PPAR Gamma C161T in the pathophysiology of acute coronary syndrome.

Materials and Methods: This study was a prospective cross-sectional study carried out in BLDE (Deemed to be University), out of 100 patients screened for acute coronary syndrome, eight patients were excluded based on the exclusion criteria and 92 patients were included in the study. These patients then underwent detailed evaluation based on clinical examination, biochemical profiles, electrocardiographic and echocardiographic changes, their venous blood samples were then taken and analysed for PPAR Gamma gene polymorphism using PCR technique. These patients were divided into two groups: Nine patients in GroupAi.e. PPAR Gamma Gene mutation positive and 83 patients in Group B i.e. Gamma Gene mutation absent. All the obtained data was entered into Microsoft excel sheet for analysis data was analysed statistically, all continuous were compared using independent t- test, non-continuous variables and categorical variables were compared using chi square test. Results: In this studymales patients were more (59.8%%),the most common age group of patients were between 50 to 70 years, most of these patients presented with chest pain (88%), followed by dyspnoea (33.70%), risk factors included smoking (38.3%),tobacco chewing (27.7%),diabetes and hypertension.Out of these 9 patients showed positive mutation (Group A) in this Group A commonest ECG finding was STEMI:inferior walland 16 of this patient showed major adverse cardiac event. Conclusion: This study we have demonstrated a significant relationship between PPAR Gamma gene polymorphism and acute coronary syndrome. One of the Observation was presence of the disease in all age groups above 40 years and also in few with no risk factors, hence there is need for more vigilant screening for the disease and use of Genetic profiling in all patients along with other routine biochemical and radiological tests.