Show simple item record

dc.contributor.advisorGriffiths, Lyn
dc.contributor.authorFowdar, Javed Youssouf
dc.date.accessioned2018-01-23T02:23:57Z
dc.date.available2018-01-23T02:23:57Z
dc.date.issued2012
dc.identifier.doi10.25904/1912/2324
dc.identifier.urihttp://hdl.handle.net/10072/365911
dc.description.abstractHypertension, which is defined as persistent high blood pressure, is a major risk factor for cardiovascular diseases and affects more than 1 billion people worldwide. Approximately twenty percent of Australian adults receive treatment for hypertension and thus hypertension is also a major cost to healthcare systems, both in Australia and worldwide. Despite the high burden of hypertension on society, the majority of the risk factors for developing hypertension are still unknown. Though the involvement of environmental factors in hypertension development has been relatively well-characterised, hypertension is a complex polygenic disease of which only a few susceptibility genes have been identified. The broad aims of this research were therefore to identify hypertension susceptibility genes through both a traditional hypothesis-driven approach (candidate gene studies) and through gene discovery methods that do not rely on a priori biological assumptions (genome-wide association studies and pathway analysis studies). Using a combined approach, this research investigated both canonical blood pressure regulation pathways and novel mechanisms for association with hypertension susceptibility. The study utilised a case-control association approach involving Australian hypertensive cases and age-, sex-, and ethnicity-matched controls to investigate specific candidate genes and a more comprehensive genome-wide association study (GWAS) and pathway analysis for novel gene discovery. The candidate gene approach was based on the hypothesis that hyperhomocysteinemia-causing gene variants in enzymes of the homocysteine (Hcy) metabolism pathway increase the risk of hypertension and examined four such markers in three Hcy pathway genes, MTHFR, MTRR, and MTHFD1. Despite some mixed reports on the positive association of hypertension and MTHFR, this approach found no significant association of any of the Hcy gene markers with hypertension either individually or in an epistatic interaction model.
dc.languageEnglish
dc.publisherGriffith University
dc.publisher.placeBrisbane
dc.rights.copyrightThe author owns the copyright in this thesis, unless stated otherwise.
dc.subject.keywordsHypertension genes
dc.subject.keywordsHyperhomocysteinemia-causing gene variants
dc.subject.keywordsMethylenetetrahydrofolate reductase (MTHFR)
dc.subject.keywordsMethionine synthase reductase (MTRR)
dc.subject.keywordsMethylenetetrahydrofolate dehydrogenase 1 (MTHFD1)
dc.titleIdentification of Hypertension Genes Following a Genome-Wide Association Scan
dc.typeGriffith thesis
gro.facultyGriffith Health
gro.rights.copyrightThe author owns the copyright in this thesis, unless stated otherwise.
gro.hasfulltextFull Text
dc.contributor.otheradvisorRose'meyer, Roselyn
dc.contributor.otheradvisorMacGregor, Stuart
dc.rights.accessRightsPublic
gro.identifier.gurtIDgu1374124847854
gro.source.ADTshelfnoADT0
gro.source.GURTshelfnoGURT1451
gro.thesis.degreelevelThesis (PhD Doctorate)
gro.thesis.degreeprogramDoctor of Philosophy (PhD)
gro.departmentSchool of Medical Science
gro.griffith.authorFowdar, Javed Y.


Files in this item

This item appears in the following Collection(s)

Show simple item record