Investigating metabolic dysfunction and arrhythmogenesis in an early-onset atrial fibrillation patient cohort

Thesis type
(Thesis) M.Sc.
Date created
2021-04-23
Authors/Contributors
Abstract
Despite the prevalence of atrial fibrillation (AF) and the burden it places on health care systems, there remains much that is unknown regarding heritable factors influencing its development and progression. In this study, I investigated whole-exome sequencing (WES) data from a cohort of patients presenting with early-onset AF to explore the role that metabolic dysfunction might play in contributing to disease onset. I curated a metabolism-related gene panel and, following in silico prediction of variant pathogenicity, performed gene-level burden testing using reference data from the Genome Aggregation Database (gnomAD) and the human mitochondrial genome database MITOMAP. I further explored genes associating with AF in the UK Biobank data set, and discovered associations with several AF comorbidities including diabetes, hypertension, and stroke.
Document
Identifier
etd21346
Copyright statement
Copyright is held by the author(s).
Permissions
This thesis may be printed or downloaded for non-commercial research and scholarly purposes.
Supervisor or Senior Supervisor
Thesis advisor: Tibbits, Glen
Language
English
Attachment Size
input_data\21745\etd21346.pdf 535.36 KB