Identification of Susceptibility Genes for Metabolic Syndrome in the Isolated Population of Norfolk Island

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Primary Supervisor

Griffiths, Lyn

Lea, Rod

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Macartney, Donia

Chambers, Geoffrey

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Date
2014
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Abstract

The Metabolic Syndrome (MetS) is a common disorder characterized by obesity and abnormal lipid and carbohydrate metabolism. Although not a disease in itself, MetS leads to markedly increased risk of developing type-2 diabetes (T2D) and cardiovascular disease (CVD). MetS, and its component traits, are influenced by a complex interplay of multiple factors including modifiable environmental variables and inherited genetic predisposition. These envirogenomic relationships are yet to be completely elucidated and are likely to vary among different populations. The Norfolk Island (NI) community is an isolated population whereby the majority of inhabitants are direct descendants of 18th century European Bounty Mutineers and Polynesian (Tahitian) women, who relocated to NI from Pitcairn Island in 1856. Due to it's geographic separation from mainland Australia the NI population grew in isolation from other communities, which has resulted in a characteristic gene pool with features including reduced genetic diversity and Polynesian admixture. There is also a very well documented family history that has been used to establish a large multi-generational pedigree. Genetic isolates such as this can provide a powerful resource for studies of genetically influenced conditions, as their pedigree structure and size can provide improved inheritance information content and statistical power. To date, the prevalence or risk of MetS, CVD and T2D, have not been formally examined in the NI population, nor has there been research specifically focusing on the genetic susceptibility of MetS in this population.

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Thesis (PhD Doctorate)

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Doctor of Philosophy (PhD)

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School of Medical Science

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The author owns the copyright in this thesis, unless stated otherwise.

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Subject

Metabolic Syndrome (MetS)

Type-2 diabetes (T2D)

Cardiovascular disease (CVD)

Norfolk Island

Isolated Population, Gene pool

Gene mapping

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