Genetics of myocardial infarction

Abstract

Myocardial Infarction (MI) is a complex condition that can be caused by several factors including both genetic and environmental components. Environmental factors have been studied in depth and common environmental risk factors such as smoking, hypertension and diabetes have been well established in their correlation to the risk of MI. It is well known that genetic components play a role in the cause of myocardial infarction. The peroxisome proliferator-activated receptor gamma coactivator 1-beta (PPARGC1B) gene forms part of a family of genes that code for proteins called PGC-1 coactivators that are involved in the control of gene expression some of which are associated with metabolic pathways in the cardiovascular system. The primary aim of this project is to study a missense polymorphism on exon 5 position 5q32 of the PPARGC1B gene (designated rs number 17572019) and its potential effects on the risk of myocardial infarction. The methodology used involved polymerase chain reaction from the DNA extracted from whole blood samples that were collected by the Maltese Acute Myocardial Infarction Study (MAMI) followed by restriction enzyme digest using HpaII enzyme which recognizes and cuts the wildtype but not the variant. The genotype of each DNA sample that was worked on was determined using agarose gel electrophoresis to check how the digest affected the PCR products of each sample. The overall results show that individuals that possessed the alternative allele (homozygote alternative/homozygotes) were at less risk of being afflicted with the disease than the ones who were homozygous wildtype hence it was concluded that the alternative allele had a protective effect on the overall subjects that participated in this study.