All Outputs (52)

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.

Clinical and molecular features of thiazide-induced hyponatremia (2018)
Journal Article
Nadal, J., Channavajjhala, S. K., Jia, W., Clayton, J., Hall, I. P., & Glover, M. (2018). Clinical and molecular features of thiazide-induced hyponatremia. Current Hypertension Reports, 20(4), Article 31. https://doi.org/10.1007/s11906-018-0826-6

Hypertension affects more than 30% of the world’s adult population and thiazide (and thiazide-like) diuretics are amongst the most widely used, effective and least costly treatments available, with all-cause mortality benefits equivalent to ACE inhib... Read More about Clinical and molecular features of thiazide-induced hyponatremia.

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., Amuzu, A., Choi, M., Dale, C., Kumari, M., Engmann, J., Kalsheker, N., Chappell, S., Guetta-Baranes, T., McKeever, T. M., Palmer, C. N., Tavendale, R., Holloway, J. W., Sayer, A. A., Dennison, E. M., …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., Shrine, N., Obeidat, M., Trochet, H., McArdle, W. L., Alves, A. C., Hui, J., Zhao, J. H., Joshi, P. K., Teumer, A., Albrecht, E., Imboden, M., Rawal, R., Lopez, L. M., Marten, J., …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.

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., Billington, C. K., Kheirallah, A. K., Allen, R., Cook, J. P., Probert, K., Obeidat, M., Bossé, Y., Hao, K., Postma, D. S., Paré, P. D., Ramasamy, A., Mägi, R., Mihailov, E., Reinmaa, E., …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.

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.