All Outputs (60)

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation (2015)
Journal Article
Artigas, M. S., Wain, L. V., Miller, S., Kheirallah, A. K., Huffman, J. E., Ntalla, I., …Tobin, M. D. (2015). Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nature Communications, 6, 1-12. https://doi.org/10.1038/ncomms9658

Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC... Read More about Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

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.

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank (2015)
Journal Article
Wain, L. V., Shrine, N., Miller, S., Jackson, V. E., Ntalla, I., Artigas, M. S., …Hall, I. P. (2015). Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank. Lancet Respiratory Medicine, 3(10), https://doi.org/10.1016/S2213-2600%2815%2900283-0

Background Understanding the genetic basis of airflow obstruction and smoking behaviour is key to determining the pathophysiology of chronic obstructive pulmonary disease (COPD). We used UK Biobank data to study the genetic causes of smoking behav... Read More about Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

Pharmacogenetics of Asthma (2015)
Book Chapter
Fenech, A. G., Sayers, I., & Portelli, M. A. (2015). Pharmacogenetics of Asthma. In G. Grech, & I. Grossman (Eds.), Preventive and Predictive Genetics: Towards Personalised Medicine (241-274). Cham: Springer. https://doi.org/10.1007/978-3-319-15344-5_9

The study of pharmacogenetics has expanded from what were initially casual drug response observations present in families, to a fully-fledged science with direct therapeutic applications, within a timespan of less than 60 years. Within the field of a... Read More about Pharmacogenetics of Asthma.

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.

Mouse Protocadherin-1 gene expression is regulated by cigarette smoke exposure in vivo (2014)
Journal Article
Koning, H., Oosterhout, A. J. V., Brouwer, U., Boef, L. E. D., Gras, R., Reinders-Luinge, M., …Nawijn, M. C. (2014). Mouse Protocadherin-1 gene expression is regulated by cigarette smoke exposure in vivo. PLoS ONE, 9(7), Article e98197. https://doi.org/10.1371/journal.pone.0098197

Protocadherin-1 (PCDH1) is a novel susceptibility gene for airway hyperresponsiveness, first identified in families exposed to cigarette smoke and is expressed in bronchial epithelial cells. Here, we asked how mouse Pcdh1 expression is regulated in l... Read More about Mouse Protocadherin-1 gene expression is regulated by cigarette smoke exposure in vivo.

The impact of azithromycin therapy on the airway microbiota in asthma (2014)
Journal Article
Slater, M., Rivett, D. W., Williams, L., Martin, M., Harrison, T. W., Sayers, I., …Shaw, D. E. (2014). The impact of azithromycin therapy on the airway microbiota in asthma. Thorax, 69(7), https://doi.org/10.1136/thoraxjnl-2013-204517

There is interest in the use of macrolide antibiotics in asthma. Macrolides have been shown to improve airway hyperresponsiveness (AHR) and measures of airway inflammation.The degree of AHR may relate to the microbiota present in the airways, with a... Read More about The impact of azithromycin therapy on the airway microbiota in asthma.

Genome-wide association analysis identifies six new loci associated with forced vital capacity (2014)
Journal Article
Loth, D. W., Artigas, M. S., Gharib, S. A., Wain, L. V., Franceschini, N., Koch, B., …London, S. J. (2014). Genome-wide association analysis identifies six new loci associated with forced vital capacity. Nature Genetics, 46(7), 669-677. https://doi.org/10.1038/ng.3011

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies an... Read More about Genome-wide association analysis identifies six new loci associated with forced vital capacity.

Clonally expanded human airway smooth muscle cells exhibit morphological and functional heterogeneity (2014)
Journal Article
Singh, S. R., Billington, C. K., Sayers, I., & Hall, I. P. (2014). Clonally expanded human airway smooth muscle cells exhibit morphological and functional heterogeneity. Respiratory Research, 15(1), Article 57. https://doi.org/10.1186/1465-9921-15-57

Background: Mesenchyme-derived airway cell populations including airway smooth muscle (ASM) cells, fibroblasts and myofibroblasts play key roles in the pathogenesis of airway inflammation and remodeling. Phenotypic and functional characterisation of... Read More about Clonally expanded human airway smooth muscle cells exhibit morphological and functional heterogeneity.

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.

Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma (2014)
Journal Article
Wain, L. V., Odenthal-Hesse, L., Abujaber, R., Sayers, I., Beardsmore, C., Gaillard, E. A., …Hollox, E. J. (2014). Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma. PLoS ONE, 9(1), Article e84192. https://doi.org/10.1371/journal.pone.0084192

Lung function measures are heritable, predict mortality and are relevant in diagnosis of chronic obstructive pulmonary disease (COPD). COPD and asthma are diseases of the airways with major public health impacts and each have a heritable component. G... Read More about Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma.

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.

Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children (2013)
Journal Article
Tulah, A. S., Holloway, J. W., & Sayers, I. (2013). Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children. BMC Medical Genetics, 14(100), https://doi.org/10.1186/1471-2350-14-100

Background: Asthma genome-wide association studies (GWAS) have identified several asthma susceptibility genes with confidence; however the relative contribution of these genetic variants or single nucleotide polymorphisms (SNPs) to clinical endpoints... Read More about Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children.

GSTCD and INTS12 regulation and expression in the human lung (2013)
Journal Article
Obeidat, M., Miller, S., Probert, K., Billington, C. K., Henry, A. P., Hodge, E., …Hall, I. P. (2013). GSTCD and INTS12 regulation and expression in the human lung. PLoS ONE, 8(9), Article e74630. https://doi.org/10.1371/journal.pone.0074630

Genome-Wide Association Study (GWAS) meta-analyses have identified a strong association signal for lung function, which maps to a region on 4q24 containing two oppositely transcribed genes: glutathione S-transferase, C-terminal domain containing (GST... Read More about GSTCD and INTS12 regulation and expression in the human lung.

HTR4 gene structure and altered expression in the developing lung (2013)
Journal Article
Hodge, E., Nelson, C. P., Miller, S., Billington, C. K., Stewart, C. E., Swan, C., …Sayers, I. (2013). HTR4 gene structure and altered expression in the developing lung. Respiratory Research, 14(77), https://doi.org/10.1186/1465-9921-14-77

Background: Meta-analyses of genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) spanning the 5-hydroxytryptamine receptor 4 (5-HT4R) gene (HTR4) associated with lung function. The aims of this study were t... Read More about HTR4 gene structure and altered expression in the developing lung.

Leukotriene B4 receptor locus gene characterisation and association studies in asthma (2012)
Journal Article
Tulah, A. S., Beghé, B., Barton, S. J., Holloway, J. W., & Sayers, I. (2012). Leukotriene B4 receptor locus gene characterisation and association studies in asthma. BMC Medical Genetics, 13(Novemb), Article 11. https://doi.org/10.1186/1471-2350-13-110

Background: Polymorphisms spanning genes involved in the production of leukotriene B4 (LTB4) e.g. ALOX5AP and LTA4H are associated with asthma susceptibility, suggesting a role for LTB4 in disease. The contribution of LTB4 receptor polymorphism is... Read More about Leukotriene B4 receptor locus gene characterisation and association studies in asthma.

Genome-wide association study to identify genetic determinants of severe asthma (2012)
Journal Article
Wan, Y., Shrine, N., Soler Artigas, M., Wain, L., Blakey, J., Moffatt, M., …Hall, I. P. (2012). Genome-wide association study to identify genetic determinants of severe asthma. Thorax, 67(9), https://doi.org/10.1136/thoraxjnl-2011-201262

Background The genetic basis for developing asthma has been extensively studied. However, association studies to date have mostly focused on mild to moderate disease and genetic risk factors for severe asthma remain unclear. Objective To identify co... Read More about Genome-wide association study to identify genetic determinants of severe asthma.

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.