Use this URL to cite or link to this record in EThOS: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.589622
Title: Investigation of genetic factors causing asthma and associated traits
Author: Haghighi Kakhki, Alireza
Awarding Body: University of Oxford
Current Institution: University of Oxford
Date of Award: 2011
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Abstract:
Asthma is a common complex disease that affects millions of people around the world. Studies indicate the increase in prevalence of asthma worldwide during the past century and report asthma as an important cause of morbidity and mortality. Asthma can be considered as an important health condition in the UK that ranks amongst the countries with the highest rate of asthma prevalence, hospital admissions and mortality due to asthma. Asthma is caused by a combination of genetic and environmental factors. Genetics has an important role in development of asthma with the heritability of around 70% in most studies. To date, more than 100 asthma . associated genes have been identified but they account for only a small proportion of the heritability of asthma. The centerpiece of this thesis is the investigation of genetic association of cystatin and cathepsin genes with asthma and associated phenotypes including atopy and IgE levels. Cathepsinsl cystatins, as proteases and the related antiproteases have been suggested to have a role in airway remodeling. The investigation included three phases; initial association study, replication study in two independent samples sets and complementary analyses. Three sample panels were used in the studies; AUS1/UK1, MRC- AlMRC-E and DLM-4264. The results of this work identified CSTL 1 (cystatin like-1) associated with asthma and IgE levels.
Supervisor: Cookson, William ; Ragoussis, Ioannis Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID: uk.bl.ethos.589622  DOI: Not available
Keywords: Asthma--Genetic aspects ; Linkage (Genetics) ; Single nucleotide polymorphisms
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