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Title: Investigating genetic, epigenetic and biological ageing mechanisms in complications of type 1 diabetes
Author: Duffy, Seamus
ISNI:       0000 0004 6425 2645
Awarding Body: Queen's University Belfast
Current Institution: Queen's University Belfast
Date of Award: 2017
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This PhD project aimed to investigate the underlying genetic component of complications secondary to diabetes. This was accomplished by the combination of novel and emerging genetic technologies as well as bioinformatic approaches to probe the genome of multiple populations to determine the role of genetics in diabetic complications, specifically diabetic kidney disease and coronary artery disease. Additionally, I have had a long-standing interest in the functions of telomeres in human biology. I was fortunate to have the opportunity to incorporate this interest into this PhD thesis. Chapter 3 comprises a technical review and comparison of three next generation sequencing techniques for potential future clinical use. It gives an overview of current genome-wide association study methodologies and presents how next-generation sequencing technology is improving upon these established methods. Chapters 4 and 5 explore the role of telomeres in diabetic kidney disease and end-stage renal disease. First, telomere length was established and compared between cases and controls. Secondly, genome and epigenome wide association data were used to explore variations in nuclear genes known to have a role in telomere function between cases and controls. Chapter 6 describes the discovery and replication steps in a large collaborative genome wide association study for genetic variation in coronary artery disease secondary to type 1 diabetes.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available