High Throughput Genotyping and Sequencing Using Pooled DNA/RNA

Principal Investigator: Jamie Engert
Theme : Health
Competition : Pilot projects GQ
Status : Completed
Start : Oct. 1, 2010
End: Sept. 30, 2012
Budget : $207,717.00

Over 80% of heart disease occurs in developing countries, yet until recently little was known about the role of risk factors in these populations. INTERHEART is a global case-control study of 27,000 individuals from 262 centers in 52 countries. The INTERHEART study identified nine risk factors as well as specific genes that play a role in heart attacks around the world. Follow-up studies are now needed to identify additional genes that influence heart attack and whether the same genes or different genes contribute to heart disease between populations and between men and women.

Professor Engert’s team proposes to undertake a study of genetic variation that may play a role in heart attack. Blood samples from which DNA was extracted were collected from over 15,000 INTERHEART participants. Non-European ethnic groups make up a significant fraction of the world’s population (as well as of the INTERHEART study). Because each ethnicity may harbor unique variants, it is important to analyze them separately. New technologies for analyzing DNA (sequencing and genotyping) have greatly increased our ability to discover genetic variation. The primary objective of this project is to provide data that can be used to design a large-scale investigation of the genetic causes of heart attack in multiple ethnicities. This project will test a novel approach (DNA pooling) to identify variants that will allow for the discovery of important genetic variants at a substantially reduced cost. This will eventually lead to significant contributions to our understanding of the global genetics of heart attack.



Sonia Anand McMaster University
Tomi Pastinen McGill University