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Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk (2023)
Journal Article
Shrine, N., Izquierdo, A. G., Chen, J., Packer, R., Hall, R. J., Guyatt, A. L., …Consortium Lead Principal Investigators. (2023). Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk. Nature Genetics, 55, 1778–1779. https://doi.org/10.1038/s41588-023-01531-7

Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection (2023)
Journal Article
Packer, R. J., Shrine, N., Hall, R., Melbourne, C. A., Thompson, R., Williams, A. T., …Wain, L. V. (2023). Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection. European Respiratory Journal, 61(6), Article 2201667. https://doi.org/10.1183/13993003.01667-2022

Chronic sputum production impacts on quality of life and is a feature of many respiratory diseases. Identification of the genetic variants associated with chronic sputum production in a disease agnostic sample could improve understanding of its cause... Read More about Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection.

Evaluation of outpatient treatment for non-hospitalised patients with COVID-19: The experience of a regional centre in the UK (2023)
Journal Article
Goodwin, A. T., Thompson, J. S., & Hall, I. P. (2023). Evaluation of outpatient treatment for non-hospitalised patients with COVID-19: The experience of a regional centre in the UK. PLoS ONE, 18(3), Article e0281915. https://doi.org/10.1371/journal.pone.0281915

Introduction Antivirals, such as molnupiravir, and SARS-CoV-2 neutralising monoclonal antibodies (nMAbs), such as sotrovimab, reduced the risk of hospitalisation and death in clinical trials of high-risk non-hospitalised patients with Covid-19. Howev... Read More about Evaluation of outpatient treatment for non-hospitalised patients with COVID-19: The experience of a regional centre in the UK.

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk (2023)
Journal Article
Shrine, N., Izquierdo, A. G., Chen, J., Packer, R., Hall, R. J., Guyatt, A. L., …The Qatar Genome Program Research (QGPR) Consortium. (2023). Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk. Nature Genetics, 55(3), 410-422. https://doi.org/10.1038/s41588-023-01314-0

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020... Read More about Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.

Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis (2023)
Journal Article
Guillen-Guio, B., Paynton, M. L., Allen, R. J., Chin, D. P., Donoghue, L. J., Stockwell, A., …Hollox, E. J. (2024). Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis. ERJ Open Research, 10(1), 00553-2023. https://doi.org/10.1183/23120541.00553-2023

Introduction Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia marked by progressive lung fibrosis and a poor prognosis. Recent studies have highlighted the potential role of infection in the pathogenesis of IPF, and a prior ass... Read More about Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis.

Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection (2022)
Preprint / Working Paper
Packer, R., Shrine, N., Hall, R., Melbourne, C., Thompson, R., Williams, A., …Wain, L. Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection

Background Chronic sputum production impacts on quality of life and is a feature of many respiratory diseases. Identification of the genetic variants associated with chronic sputum production in a disease agnostic sample could improve understanding o... Read More about Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection.

Mendelian randomisation of eosinophils and other cell types in relation to lung function and disease (2022)
Journal Article
Guyatt, A., John, C., Williams, A. T., Shrine, N., Reeve, N. F., Sayers, I., …SpiroMeta consortium. (2023). Mendelian randomisation of eosinophils and other cell types in relation to lung function and disease. Thorax, 78(5), 496-503. https://doi.org/10.1136/thoraxjnl-2021-217993

Rationale Eosinophils are associated with airway inflammation in respiratory disease. Eosinophil production and survival is controlled partly by interleukin-5: anti-interleukin-5 agents reduce asthma and response correlates with baseline eosinophil c... Read More about Mendelian randomisation of eosinophils and other cell types in relation to lung function and disease.

Genetic Associations and Architecture of Asthma-COPD Overlap (2022)
Journal Article
John, C., Guyatt, A. L., Shrine, N., Packer, R., Olafsdottir, T. A., Liu, J., …Tobin, M. D. (2022). Genetic Associations and Architecture of Asthma-COPD Overlap. Chest, 161(5), 1155-1166. https://doi.org/10.1016/j.chest.2021.12.674

Background Some people have characteristics of both asthma and COPD (asthma-COPD overlap), and evidence suggests they experience worse outcomes than those with either condition alone. Research Question What is the genetic architecture of asthma-CO... Read More about Genetic Associations and Architecture of Asthma-COPD Overlap.

Functional genomics of GPR126 in airway smooth muscle and bronchial epithelial cells (2021)
Journal Article
Hall, R. J., O'Loughlin, J., Billington, C. K., Thakker, D., Hall, I. P., & Sayers, I. (2021). Functional genomics of GPR126 in airway smooth muscle and bronchial epithelial cells. FASEB Journal, 35(7), Article e21300. https://doi.org/10.1096/fj.202002073R

GPR126 is an adhesion G protein-coupled receptor which lies on chromosome 6q24. Genetic variants in this region are reproducibly associated with lung function and COPD in genome wide association studies (GWAS). The aims of this study were to define t... Read More about Functional genomics of GPR126 in airway smooth muscle and bronchial epithelial cells.

A data analysis of the Chilean housing stock and the development of modelling archetypes (2019)
Journal Article
Molina, C., Kent, M., Hall, I., & Jones, B. (2020). A data analysis of the Chilean housing stock and the development of modelling archetypes. Energy and Buildings, 206, Article 109568. https://doi.org/10.1016/j.enbuild.2019.109568

Chile is a South American country experiencing greater social and economic development than the majority of its neighbours and whose economy is transitioning from developing to developed status. It is committed to reduce its greenhouse gas (GHG) emis... Read More about A data analysis of the Chilean housing stock and the development of modelling archetypes.

Setting the standard: The acceptability of kitchen ventilation for the English housing stock (2019)
Journal Article
O'Leary, C., Jones, B., Dimitroulopoulou, S., & Hall, I. P. (2019). Setting the standard: The acceptability of kitchen ventilation for the English housing stock. Building and Environment, 166, Article 106417. https://doi.org/10.1016/j.buildenv.2019.106417

Exposure to particulate matter with diameter ≤2.5 μm (PM2.5) is associated with an elevated risk of adverse health effects and cooking is a primary source of PM2.5 in non-smoking households. Therefore, it is important to investigate PM2.5 concentrati... Read More about Setting the standard: The acceptability of kitchen ventilation for the English housing stock.

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell type and phenotype associations (2019)
Journal Article
Sakornsakolpat, P., Prokopenko, D., Lamontagne, M., Reeve, N. F., Guyatt, A. L., Jackson, V. E., …Cho, M. H. (2019). Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell type and phenotype associations. Nature Genetics, 51(3), 494–505. https://doi.org/10.1038/s41588-018-0342-2

Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide novel insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 control... Read More about Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell type and phenotype associations.

Investigating measurements of fine particle (PM2.5) emissions from the cooking of meals and mitigating exposure using a cooker hood (2019)
Journal Article
O 'Leary, C., Kluizenaar, Y., Jacobs, P., Borsboom, W., Hall, I., & Jones, B. (2019). Investigating measurements of fine particle (PM2.5) emissions from the cooking of meals and mitigating exposure using a cooker hood. Indoor Air, 29(3), 423-438. https://doi.org/10.1111/ina.12542

There is growing awareness that indoor exposure to particulate matter with diameter ≤ 2.5μm (PM2.5) is associated with an increased risk of adverse health effects. Cooking is a key indoor source of PM2.5 and an activity conducted daily in most homes.... Read More about Investigating measurements of fine particle (PM2.5) emissions from the cooking of meals and mitigating exposure using a cooker hood.

Genetic risk factors for the development of pulmonary disease identified by genome-wide association (2018)
Journal Article
Hall, R., Hall, I. P., & Sayers, I. (2018). Genetic risk factors for the development of pulmonary disease identified by genome-wide association. Respirology, 24(3), 204-214. https://doi.org/10.1111/resp.13436

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.

A Genome-Wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function. The Hispanic Community Health Study/Study of Latinos (2018)
Journal Article
Burkart, K. M., Sofer, T., London, S. J., Manichaikul, A., Hartwig, F. P., Yan, Q., …Barr, R. G. (2018). A Genome-Wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function. The Hispanic Community Health Study/Study of Latinos. American Journal of Respiratory and Critical Care Medicine, 198(2), 208-219. https://doi.org/10.1164/rccm.201707-1493OC

Rationale: Lung function and chronic obstructive pulmonary disease (COPD) are heritable traits. Genome-wide association studies (GWAS) have identified numerous pulmonary function and COPD loci, primarily in cohorts of European ancestry. Objectives:... Read More about A Genome-Wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function. The Hispanic Community Health Study/Study of Latinos.

Targeted inhibition of Gq signaling induces airway relaxation in mouse models of asthma (2017)
Journal Article
Matthey, M., Roberts, R., Seidinger, A., Simon, A., Schröder, R., Kuschak, M., …Wenzel, D. (in press). Targeted inhibition of Gq signaling induces airway relaxation in mouse models of asthma. Science Translational Medicine, 9(407), https://doi.org/10.1126/scitranslmed.aag2288

Obstructive lung diseases are common causes of disability and death worldwide. A hallmark feature is aberrant activation of Gq protein–dependent signaling cascades. Currently, drugs targeting single G protein (heterotrimeric guanine nucleotide–bindin... Read More about Targeted inhibition of Gq signaling induces airway relaxation in mouse models of asthma.

Age at menarche and lung function: a Mendelian randomization study (2017)
Journal Article
Gill, D., Sheehan, N. A., Wielscher, M., Shrine, N., Amaral, A. F. S., Thompson, J. R., …Minelli, C. (2017). Age at menarche and lung function: a Mendelian randomization study. European Journal of Epidemiology, 32(8), 701-710. https://doi.org/10.1007/s10654-017-0272-9

A trend towards earlier menarche in women has been associated with childhood factors (e.g. obesity) and hypothesised environmental exposures (e.g. endocrine disruptors present in household products). Observational evidence has shown detrimental effec... Read More about Age at menarche and lung function: a Mendelian randomization study.

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.

Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function decline (2017)
Journal Article
John, C., Soler Artigas, M., Hui, J., Nielsen, S. F., Rafaels, N., Paré, P. D., …Tobin, M. D. (2017). Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function decline. Thorax, 72(5), https://doi.org/10.1136/thoraxjnl-2016-208448

Background: Genome-wide association studies have identified numerous genetic regions that influence cross-sectional lung function. Longitudinal decline in lung function also includes a heritable component but the genetic determinants have yet to be d... Read More about Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function decline.

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis (2017)
Journal Article
Hobbs, B. D., de Jong, K., Lamontagne, M., Bossé, Y., Shrine, N., Artigas, M. S., …Cho, M. H. (in press). Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. Nature Genetics, 49(3), https://doi.org/10.1038/ng.3752

Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 × 10(-6)) in 9,498 cases and 9,748 con... Read More about Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.

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.

Evidence for large-scale gene-by-smoking interaction effects on pulmonary function (2017)
Journal Article
Aschard, H., Tobin, M. D., Hancock, D. B., Skurnik, D., Sood, A., James, A., …Kraft, P. (in press). Evidence for large-scale gene-by-smoking interaction effects on pulmonary function. International Journal of Epidemiology, Article dyw318. https://doi.org/10.1093/ije/dyw318

Background: Smoking is the strongest environmental risk factor for reduced pulmonary function. The genetic component of various pulmonary traits has also been demonstrated, and at least 26 loci have been reproducibly associated with either FEV1 (forc... Read More about Evidence for large-scale gene-by-smoking interaction effects on pulmonary function.

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.

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.

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences (2016)
Journal Article
Thorgeirsson, T., Steinberg, S., Reginsson, G., Bjornsdottir, G., Rafnar, T., Jonsdottir, I., …Stefansson, K. (in press). A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences. Molecular Psychiatry, 21(5), https://doi.org/10.1038/mp.2016.13

Using Icelandic whole-genome sequence data and an imputation approach we searched for rare sequence variants in CHRNA4 and tested them for association with nicotine dependence. We show that carriers of a rare missense variant (allele frequency = 0.24... Read More about A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.

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.

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.

Integrative pathway genomics of lung function and airflow obstruction (2015)
Journal Article
Gharib, S. A., Loth, D. W., Soler Artigas, M., Birkland, T. P., Wilk, J. B., Wain, L. V., …London, S. J. (2015). Integrative pathway genomics of lung function and airflow obstruction. Human Molecular Genetics, 24(23), 6836-6848. https://doi.org/10.1093/hmg/ddv378

Chronic respiratory disorders are important contributors to the global burden of disease. Genome-wide association studies (GWASs) of lung function measures have identified several trait-associated loci, but explain only a modest portion of the phenot... Read More about Integrative pathway genomics of lung function and airflow obstruction.

Molecular mechanisms underlying variations in lung function: a systems genetics analysis (2015)
Journal Article
Obeidat, M., Hao, K., Bossé, Y., Nickle, D. C., Nie, Y., Postma, D. S., …Paré, P. D. (2015). Molecular mechanisms underlying variations in lung function: a systems genetics analysis. Lancet Respiratory Medicine, 3(10), https://doi.org/10.1016/S2213-2600%2815%2900380-X

Background: Lung function measures reflect the physiological state of the lung, and are essential to the diagnosis of chronic obstructive pulmonary disease (COPD). The SpiroMeta-CHARGE consortium undertook the largest genome wide association study (G... Read More about Molecular mechanisms underlying variations in lung function: a systems genetics analysis.

Complications and mortality in hereditary hemorrhagic telangiectasia: a population-based study (2015)
Journal Article
Donaldson, J., McKeever, T. M., Hall, I. P., Hubbard, R., & Fogarty, A. W. (2015). Complications and mortality in hereditary hemorrhagic telangiectasia: a population-based study. Neurology, 84(18), https://doi.org/10.1212/WNL.0000000000001538

OBJECTIVES: Studies report that the risks of significant neurologic complications (including stroke, cerebral abscess, and migraine) and hemorrhagic sequelae are high in patients with hereditary hemorrhagic telangiectasia (HHT), and that life expe... Read More about Complications and mortality in hereditary hemorrhagic telangiectasia: a population-based study.

Efficacy of BI 671800, an oral CRTH2 antagonist, in poorly controlled asthma as sole controller and in the presence of inhaled corticosteroid treatment (2015)
Journal Article
Hall, I. P., Fowler, A. V., Gupta, A., Tetzlaff, K., Nivens, M. C., Sarno, M., …Rand Sutherland, E. (2015). Efficacy of BI 671800, an oral CRTH2 antagonist, in poorly controlled asthma as sole controller and in the presence of inhaled corticosteroid treatment. Pulmonary Pharmacology and Therapeutics, 32, https://doi.org/10.1016/j.pupt.2015.03.003

The prostaglandin D2 (PGD2) receptor, CRTH2, plays a role in allergic airway inflammation. The efficacy of BI 671800, a CRTH2 antagonist, was assessed in 2 separate trials in patients with asthma, in either the absence or the presence of inhaled cort... Read More about Efficacy of BI 671800, an oral CRTH2 antagonist, in poorly controlled asthma as sole controller and in the presence of inhaled corticosteroid treatment.

A systematic review and meta-analysis of thiazide-induced hyponatraemia: time to reconsider electrolyte monitoring regimens after thiazide initiation? (2015)
Journal Article
Barber, J., McKeever, T. M., McDowell, S. E., Clayton, J. A., Ferner, R. E., Gordon, R. D., …Glover, M. (2015). A systematic review and meta-analysis of thiazide-induced hyponatraemia: time to reconsider electrolyte monitoring regimens after thiazide initiation?. British Journal of Clinical Pharmacology, 79(4), https://doi.org/10.1111/bcp.12499

Aims: Hyponatraemia is one of the major adverse effects of thiazide and thiazide-like diuretics and the leading cause of drug-induced hyponatraemia requiring hospital admission. We sought to review and analyze all published cases of this important co... Read More about A systematic review and meta-analysis of thiazide-induced hyponatraemia: time to reconsider electrolyte monitoring regimens after thiazide initiation?.

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. https://doi.org/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.

The role of inflammation resolution speed in airway smooth muscle mass accumulation in asthma: insight from a theoretical model (2014)
Journal Article

Despite a large amount of in vitro data, the dynamics of airway smooth muscle (ASM) mass increase in the airways of patients with asthma is not well understood. Here, we present a novel mathematical model that describes qualitatively the growth dynam... Read More about The role of inflammation resolution speed in airway smooth muscle mass accumulation in asthma: insight from a theoretical model.

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 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.

Pharmacogenetics, pharmacogenomics and airway disease (2002)
Journal Article
Hall, I. P. (2002). Pharmacogenetics, pharmacogenomics and airway disease. Respiratory Research, 3(1),

The availability of a draft sequence for the human genome will revolutionise research into airway disease. This review deals with two of the most important areas impinging on the treatment of patients: pharmacogenetics and pharmacogenomics. Considera... Read More about Pharmacogenetics, pharmacogenomics and airway disease.

Interleukin-4 receptor alpha gene variants and allergic disease (2000)
Journal Article
Hall, I. P. (2000). Interleukin-4 receptor alpha gene variants and allergic disease. Respiratory Research, 1(1),

The interleukin-4 (IL-4) signalling cascade has been identified as a pathway potentially important in the development of asthma. Genetic variants within this signalling pathway might contribute to the risk of developing asthma in a given individual.... Read More about Interleukin-4 receptor alpha gene variants and allergic disease.