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Title: Genetics of stroke : a study of phenotyping and identifying candidate genes for ischaemic stroke
Author: Pasdar, Alireza
ISNI:       0000 0004 2717 0915
Awarding Body: University of Aberdeen
Current Institution: University of Aberdeen
Date of Award: 2011
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Stroke is the leading cause of disability and the third leading cause of death in the UK. Ischaemic stroke is the commonest form of stroke and has a highly complex risk factor profile and phenotype making it difficult to unravel the genetic background. For the purpose of clinical or genetic studies, being able to correct for stroke subtype in the analysis strengthens the validity and generalisability of outcomes. Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria for classification of stroke patients have been used and validated in this study. Disordered lipid metabolism may predispose to stroke or stroke subtypes. This thesis investigates important polymorphisms of genes involved in lipid metabolism such as PONs (PON1, 2 and 3) and ABCA1, and their relationships with lipid profile and with stroke in our control and ischaemic stroke populations. Data shows that although individual variations of PON genes (PON1-Q192R, PON1-L55M, PON2-C311S, PON2-A148G and PON3 SNPs) do not have any significant effect on ischaemic stroke, combination of these SNPs (haplotypes) may infer some degree of protection or risk of ischaemic stroke. Variations in ABCA1 gene including R219K can also influence the lipid profile. Furthermore, analysis of the effect of FLAP gene polymorphisms, taking into account possible confounders, suggests a role for HapA in stroke caused by large vessel disease (LVD). We then address DNA pooling as a method for global genotyping and report the results of screening SNPs of further genes involved in lipid metabolism and vascular rheology including CETP, LCAT and Cx37 (GJA4). This study suggests a role for Cx37 gene in our ischaemic stroke population. In conclusion, while some associations have been found, further work should concentrate on very large well phenotyped cohorts in order to further dissect the role of genetics in predisposing to ischaemic stroke.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available