The role of novel genetic and epigenetic mechanisms in the development of type 2 diabetes

Thesis

Type 2 diabetes (T2D) is a metabolic disease characterised by insulin resistance and beta-cell failure and a leading cause of mortality and morbidity. GWAS have identified pancreatic beta-cell dysfunction as a major player in T2D pathogenesis, but since the majority of signals reside in non- coding sequence the causal variant(s) and effector transcripts often remain undefined. Combining human genetic discoveries with genomic interrogation of relevant tissues was shown to provide a powerful...

Expand abstract

Authors: Thurner, M

• DOI: 10.5287/ora-ngodv870n
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: University of Oxford
• Language: English
• Keywords: Genetics & Genomics; Genome-wide association studies; Diabetes; Complex Disease Genetics; Islet of Langerhans
• Subjects: Epigenetics; Human Genetics; Genetics; Non-insulin-dependent diabetes; Diabetes