Identification of a novel regulatory mechanism for the disease associated protein, uPAR

Portelli, Michael A.; Hall, Ian P.; Sayers, Ian

Abstract

Expression 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.

Citation

Portelli, M. A., Hall, I. P., & Sayers, I. (2014). Identification of a novel regulatory mechanism for the disease associated protein, uPAR. Malta Medical Journal, 26(1), 32-37

• Journal Article Type: Review
• Acceptance Date: Jan 1, 2014
• Publication Date: Jan 1, 2014
• Deposit Date: Sep 27, 2023
• Journal: Malta Medical Journal
• Print ISSN: 1813-3339
• Peer Reviewed: Peer Reviewed
• Volume: 26
• Issue: 1
• Pages: 32-37
• Public URL: https://nottingham-repository.worktribe.com/output/3174333
• Publisher URL: https://www.um.edu.mt/library/oar/handle/123456789/1628