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Elevated PLAUR is observed in the airway epithelium of asthma patients and blocking improves barrier integrity (2023)
Journal Article
Portelli, M. A., Bhaker, S., Pang, V., Bates, D. O., Johnson, S. R., Mazar, A. P., …Sayers, I. (2023). Elevated PLAUR is observed in the airway epithelium of asthma patients and blocking improves barrier integrity. Clinical and Translational Allergy, 13(10), Article e12293. https://doi.org/10.1002/clt2.12293

AbstractBackgroundExpression of the urokinase plasminogen activator receptor (uPAR) is elevated in the airway epithelium in asthma; however, the contribution of uPAR to asthma pathogenesis and scope for therapeutic targeting remains unknown.Objective... Read More about Elevated PLAUR is observed in the airway epithelium of asthma patients and blocking improves barrier integrity.

Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations (2021)
Journal Article
Portelli, M. A., Rakkar, K., Hu, S., Guo, Y., Adcock, I. M., & Sayers, I. (2021). Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations. Frontiers in Allergy, 2, Article 738741. https://doi.org/10.3389/falgy.2021.738741

Asthma affects more than 300 million people globally and is both under diagnosed and under treated. The most recent and largest genome-wide association study investigating moderate to severe asthma to date was carried out in 2019 and identified 25 in... Read More about Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations.

Phenotypic and functional translation of IL33 genetics in asthma (2020)
Journal Article
Ketelaar, M. E., Portelli, M. A., Dijk, F. N., Shrine, N., Faiz, A., Vermeulen, C. J., …Nawijn, M. C. (2021). Phenotypic and functional translation of IL33 genetics in asthma. Journal of Allergy and Clinical Immunology, 147(1), 144-157. https://doi.org/10.1016/j.jaci.2020.04.051

© 2020 Background: Asthma is a complex disease with multiple phenotypes that may differ in disease pathobiology and treatment response. IL33 single nucleotide polymorphisms (SNPs) have been reproducibly associated with asthma. IL33 levels are elevate... Read More about Phenotypic and functional translation of IL33 genetics in asthma.

Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium (2020)
Journal Article
Portelli, M. A., Dijk, F. N., Ketelaar, M. E., Shrine, N., Hankinson, J., Bhaker, S., …Sayers, I. (2020). Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium. JCI insight, 5(8), Article 132446. https://doi.org/10.1172/jci.insight.132446

The IL1RL1 (ST2) gene locus is robustly associated with asthma; however, the contribution of single nucleotide polymorphisms (SNPs) in this locus to specific asthma subtypes and the functional mechanisms underlying these associations remain to be def... Read More about Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium.

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. https://doi.org/10.1016/S2213-2600%2818%2930389-8

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.

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets (2017)
Journal Article
Wain, L. V., Shrine, N., Artigas, M. S., Erzurumluoglu, A. M., Noyvert, B., Bossini-Castillo, L., …Hall, I. P. (2017). Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. Nature Genetics, 49(3), 416-425. https://doi.org/10.1038/ng.3787

Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death globally. Through genome-wide association discovery in 48,943 individuals, selected from extremes of the lung function dist... Read More about Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

Genome-wide association studies in asthma (2016)
Journal Article
Portelli, M. A., & Sayers, I. (in press). Genome-wide association studies in asthma. https://doi.org/10.1002/9780470015902.a0024639

Asthma is a complex respiratory disease, with both genetic and environmental factors contributing to disease susceptibility. Genome-wide association studies (GWAS) have now identified novel risk alleles and loci associated with asthma diagnosis and m... Read More about Genome-wide association studies in asthma.

Airway and peripheral urokinase plasminogen activator receptor is elevated in asthma, and identi?es 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, https://doi.org/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 identi?ed uPAR... Read More about Airway and peripheral urokinase plasminogen activator receptor is elevated in asthma, and identi?es a severe, nonatopic subset of patients.

Response (2015)
Journal Article
Sayers, I., Portelli, M. A., & Siedlinski, M. (2015). Response. FASEB Journal, 29(12), https://doi.org/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), https://doi.org/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), Article e1004314. 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.

Identification of a novel regulatory mechanism for the disease associated protein, uPAR (2014)
Journal Article
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

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 reg... Read More about Identification of a novel regulatory mechanism for the disease associated protein, uPAR.

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), https://doi.org/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), https://doi.org/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; ?2-adrenergic re... Read More about Genetic basis for personalized medicine in asthma.