Replication and finemapping of quantitative trait loci influencing QT interval duration in the Jackson heart study
Mentor: Christopher Newton-Cheh, Medical & Population Genetics
Prolonged or shortened electrocardiographic QT interval duration, a measure of myocardial repolarization, is a predictor of increased risk of sudden cardiac death (SCD). Additionally, drug induced prolongation of QT resulting in arrhythmias has been a major barrier to drug development. Identifying the genetic variants contributing to QT or arrhythmia risk could identify individuals who could be targeted for preventive therapies. Moreover, recognition of the small percentage of individuals predisposed to drug-induced arrhythmias could protect at-risk individuals from toxic therapies and allow beneficial medications to be given to the majority of the population at a reduced risk of arrhythmias.
Using the data from individuals of predominantly African descent from the Jackson Heart Study, Sara and her Broad colleagues attempted to fine map and replicate the association with QT interval duration of common variants associated with QT interval in individuals of European ancestry. Preliminary analysis results indicated a definitive replication of 4 variants. Additional genotyping is required to finemap these loci in JHS.
"Having completed my second summer at the Broad, I am even more excited and fascinated by genomic research. The opportunity to participate in cutting-edge research at the Broad Institute has provided me with valuable skills and a deeper understanding of genomic research."
Sara Tribune, a biology senior at Tougaloo College, studied electrocardiographic QT intervals association with common genetic variation.