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Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study (2018)
Journal Article
Shrine, N., Portelli, M. A., John, C., Soler Artigas, M., Bennett, N., Hall, R., …Sayers, I. (2019). Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study. Lancet Respiratory Medicine, 7(1), 20-34. doi:10.1016/S2213-2600(18)30389-8

Background Few genetic studies that focus on moderate-to-severe asthma exist. We aimed to identity novel genetic variants associated with moderate-to-severe asthma, see whether previously identified genetic variants for all types of asthma contribut... Read More about Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.

Airway and peripheral urokinase plasminogen activator receptor is elevated in asthma, and identifies a severe, nonatopic subset of patients (2016)
Journal Article
Portelli, M. A., Moseley, C., Stewart, C. E., Postma, D. S., Howarth, P., Warner, J., …Sayers, I. (in press). Airway and peripheral urokinase plasminogen activator receptor is elevated in asthma, and identifies a severe, nonatopic subset of patients. Allergy, doi:10.1111/all.13046

Rationale: Genetic polymorphisms in the asthma susceptibility gene, urokinase plasminogen activator receptor (uPAR/PLAUR) have been associated with lung function decline and uPAR blood levels in asthma subjects. Preliminary studieshave identified uPAR... Read More about Airway and peripheral urokinase plasminogen activator receptor is elevated in asthma, and identifies a severe, nonatopic subset of patients.

Response (2015)
Journal Article
Sayers, I., Portelli, M. A., & Siedlinski, M. (2015). Response. FASEB Journal, 29(12), doi:10.1096/fj.15-1201LTER

We thank Dr. Rasmussen and colleagues for their comments on our work outlined in “Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels” (FASEB J. 28, 923–934) and the opportunity to... Read More about Response.

Genetic risk factors for the development of allergic disease identified by genome-wide association (2015)
Journal Article
Portelli, M. A., Hodge, E., & Sayers, I. (2015). Genetic risk factors for the development of allergic disease identified by genome-wide association. Clinical and Experimental Allergy, 45(1), doi:10.1111/cea.12327

An increasing proportion of the worldwide population is affected by allergic diseases such as allergic rhinitis (AR), atopic dermatitis (AD) and allergic asthma and improved treatment options are needed particularly for severe, refractory disease. Al... Read More about Genetic risk factors for the development of allergic disease identified by genome-wide association.

Cigarette smoke and the induction of urokinase plasminogen activator receptor in vivo: selective contribution of isoforms to bronchial epithelial phenotype (2014)
Journal Article
Portelli, M. A., Stewart, C. E., Hall, I. P., Brightling, C. E., & Sayers, I. (2015). Cigarette smoke and the induction of urokinase plasminogen activator receptor in vivo: selective contribution of isoforms to bronchial epithelial phenotype. American Journal of Respiratory Cell and Molecular Biology, 53(2), 174-183. doi:10.1165/rcmb.2014-0296oc

The urokinase plasminogen activator receptor (uPAR) gene (PLAUR) has been identified as an asthma susceptibility gene, with polymorphisms within that gene being associated with baseline lung function, lung function decline, and lung function in a smo... Read More about Cigarette smoke and the induction of urokinase plasminogen activator receptor in vivo: selective contribution of isoforms to bronchial epithelial phenotype.

Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction (2014)
Journal Article
Wain, L. V., Sayers, I., Soler Artigas, M., Portelli, M. A., Zeggini, E., Obeidat, M., …Tobin, M. D. (2014). Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction. PLoS Genetics, 10(5), https://doi.org/10.1371/journal.pgen.1004314

Chronic obstructive pulmonary disease (COPD) is a leading cause of global morbidity and mortality and, whilst smoking remains the single most important risk factor, COPD risk is heritable. Of 26 independent genomic regions showing association with l... Read More about Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction.

Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels (2013)
Journal Article
Portelli, M., Siedlinski, M., Stewart, C. E., Postma, D. S., Nieuwenhuis, M. A., Vonk, J. M., …Sayers, I. (2013). Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels. FASEB Journal, 28(2), doi:10.1096/fj.13-240879

The soluble cleaved urokinase plasminogen activator receptor (scuPAR) is a circulating protein detected in multiple diseases, including various cancers, cardiovascular disease, and kidney disease, where elevated levels of scuPAR have been associated... Read More about Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels.

Genetic basis for personalized medicine in asthma (2012)
Journal Article
Portelli, M. A., & Sayers, I. (2012). Genetic basis for personalized medicine in asthma. Expert Review of Respiratory Medicine, 6(2), doi:10.1586/ers.12.9

There is heterogeneity in patient responses to current asthma medications. Significant progress has been made identifying genetic polymorphisms that influence the efficacy and potential for adverse effects to asthma drugs, including; β2-adrenergic re... Read More about Genetic basis for personalized medicine in asthma.