All Outputs (54)

Exposure to lippolysaccharide (LPS) reduces contractile response of small airways from GSTCD+ mice (2019)
Journal Article

Introduction: Genome-Wide Association Studies suggest glutathione S transferase C terminal domain (GSTCD) may play a role in development of Chronic Obstructive Pulmonary Disease. We aimed to define the potential role of GSTCD in airway inflammation a... Read More about Exposure to lippolysaccharide (LPS) reduces contractile response of small airways from GSTCD+ mice.

Defining a role for lung function associated gene GSTCD in cell homeostasis (2019)
Journal Article

Genome wide association (GWA) studies have reproducibly identified signals on chromosome 4q24 associated with lung function and COPD. GSTCD (Glutathione S-transferase C-terminal domain containing) represents a candidate causal gene in this locus, how... Read More about Defining a role for lung function associated gene GSTCD in cell homeostasis.

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries (2019)
Journal Article

Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which ar... Read More about New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study (2018)
Journal Article

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.

Genetic risk factors for the development of pulmonary disease identified by genome-wide association (2018)
Journal Article

Chronic respiratory diseases are a major cause of morbidity and mortality. Asthma and chronic obstructive pulmonary disease (COPD) combined affect over 500 million people worldwide. While environmental factors are important in disease progression, as... Read More about Genetic risk factors for the development of pulmonary disease identified by genome-wide association.

Addressing unmet needs in understanding asthma mechanisms (2017)
Journal Article

Asthma is a heterogeneous, complex disease with clinical phenotypes that incorporate persistent symptoms and acute exacerbations. It affects many millions of Europeans throughout their education and working lives and puts a heavy cost on European pro... Read More about Addressing unmet needs in understanding asthma mechanisms.

Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways (2017)
Journal Article
Kheirallah, A. K., de Moor, C. H., Faiz, A., Sayers, I., & Hall, I. P. (2017). Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways. BMC Genomics, 18(1), Article 248. https://doi.org/10.1186/s12864-017-3628-3

BACKGROUND: Genetic studies of human lung function and Chronic Obstructive Pulmonary Disease have identified a highly significant and reproducible signal on 4q24. It remains unclear which of the two candidate genes within this locus may regulate lung... Read More about Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways.

Targeted sequencing of lung function loci in chronic obstructive pulmonary disease cases and controls (2017)
Journal Article
Artigas, M. S., Wain, L. V., Shrine, N., McKeever, T. M., Sayers, I., Hall, I. P., & Tobin, M. D. (2017). Targeted sequencing of lung function loci in chronic obstructive pulmonary disease cases and controls. PLoS ONE, 12(1), Article e0170222. https://doi.org/10.1371/journal.pone.0170222

Chronic obstructive pulmonary disease (COPD) is the third leading cause of death worldwide; smoking is the main risk factor for COPD, but genetic factors are also relevant contributors. Genome-wide association studies (GWAS) of the lung function meas... Read More about Targeted sequencing of lung function loci in chronic obstructive pulmonary disease cases and controls.

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 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, 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 identified uPAR... Read More about Airway and peripheral urokinase plasminogen activator receptor is elevated in asthma, and identifies a severe, nonatopic subset of patients.

Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development (2016)
Journal Article
Miller, S., Melén, E., Merid, S. K., Hall, I. P., & Sayers, I. (in press). Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development. Respiratory Research, 17(95), https://doi.org/10.1186/s12931-016-0410-z

Background Recent meta-analyses of genome-wide association studies have identified single nucleotide polymorphisms (SNPs) within/near 54 genes associated with lung function measures. Current understanding of the contribution of these genes to human... Read More about Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development.

Erratum: Letters to the editor: Genetic polymorphism and soluble urokinase plasminogen activator receptor (2016)
Journal Article

Traditional and emerging indicators of cardiovascular risk in chronic obstructive pulmonary disease (2016)
Journal Article
John, M., McKeever, T. M., Haddad, M. A., Hall, I. P., Sayers, I., Cockcroft, J. R., & Bolton, C. E. (2016). Traditional and emerging indicators of cardiovascular risk in chronic obstructive pulmonary disease. Chronic Respiratory Disease, 13(3), https://doi.org/10.1177/1479972316636995

With the increased cardiovascular (CV) morbidity and mortality in subjects with chronic obstructive pulmonary disease (COPD), there is a priority to identify those patients at increased risk of cardiovascular disease. Stable patients with COPD (n = 1... Read More about Traditional and emerging indicators of cardiovascular risk in chronic obstructive pulmonary disease.

Translating lung function genome-wide association study (GWAS) findings: new insights for lung biology (2016)
Journal Article
Kheirallah, A. K., Miller, S., Hall, I. P., & Sayers, I. (2016). Translating lung function genome-wide association study (GWAS) findings: new insights for lung biology. Current Advances in Genetics and Molecular Biology, 93, https://doi.org/10.1016/bs.adgen.2015.12.002

Chronic respiratory diseases are a major cause of worldwide mortality and morbidity. Although hereditary severe deficiency of α1 antitrypsin (A1AD) has been established to cause emphysema, A1AD accounts for only ∼1% of Chronic Obstructive Pulmonary D... Read More about Translating lung function genome-wide association study (GWAS) findings: new insights for lung biology.

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12 (2016)
Journal Article
Jackson, V. E., Ntalla, I., Sayers, I., Morris, R., Whincup, P., Casas, J.-P., …Wain, L. V. (in press). Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12. Thorax, 71(6), https://doi.org/10.1136/thoraxjnl-2015-207876

Background Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common variants. Objective To determine rare and potentially functional single nucleotide polymorphisms (SNPs) associated... Read More about Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

Urokinase plasminogen activator receptor polymorphisms and airway remodelling in asthma (2016)
Journal Article
Ierodiakonou, D., Portelli, M. A., Postma, D. S., Koppelman, G. H., Gerritsen, J., ten Hacken, N. H., …Sayers, I. (2016). Urokinase plasminogen activator receptor polymorphisms and airway remodelling in asthma. European Respiratory Journal, 47(5), https://doi.org/10.1183/13993003.01571-2015

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

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.