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dc.contributor.authorPortelli, Michael A.-
dc.contributor.authorHall, Ian P.-
dc.contributor.authorSayers, Ian-
dc.identifier.citationMalta Medical Journal. 2014, Vol.26(1), p. 32-37en_GB
dc.description.abstractExpression quantitative trait loci (eQTLs), as determined through a series of statistical association studies collectively known as genome-wide association (GWA) studies, have provided us with a hypothesis free approach for the investigation into regulatory loci for disease and disease-associated proteins. This has led to the identification of multiple novel gene-disease interactions, especially in the field of respiratory medicine. This review describes the case study of a GWA approach in order to identify eQTLs for the soluble form of the urokinase plasminogen activator receptor (uPAR), a protein associated with obstructive respiratory disease. Molecular and cellular investigations based on the eQTLs identified for this GWA study has led to the identification of a novel regulatory mechanism with implications in the disease processes with which this protein is associated. This highlights the potential of eQTLs defined associations in the identification of novel mechanisms, with implications in disease.en_GB
dc.publisherMalta Medical Journalen_GB
dc.subjectQuantitative trait locien_GB
dc.subjectGenome-wide association studyen_GB
dc.titleIdentification of a novel regulatory mechanism for the disease associated protein, uPARen_GB
dc.rights.holderThe copyright of this article belongs to the Editorial Board of the Malta Medical Journal. The Malta Medical Journal’s rights in respect of this work are as defined by the Copyright Act (Chapter 415) of the Laws of Malta or as modified by any successive legislation. Users may access this full-text article and can make use of the information contained in accordance with the Copyright Act provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. This article has been reproduced with the authorization of the editor of the Malta Medical Journal (Ref. No 000002).en_GB
Appears in Collections:MMJ, Volume 26, Issue 1
MMJ, Volume 26, Issue 1

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