All Outputs (5)

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.

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank (2022)
Journal Article
Fawcett, K. A., Demidov, G., Shrine, N., Paynton, M. L., Ossowski, S., Sayers, I., Wain, L. V., & Hollox, E. J. (2022). Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank. BMC Medical Genomics, 15(1), Article 119. https://doi.org/10.1186/s12920-022-01268-y

Background:
The role of copy number variants (CNVs) in susceptibility to asthma is not well understood. This is, in part, due to the difficulty of accurately measuring CNVs in large enough sample sizes to detect associations. The recent availabilit... Read More about Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank.

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.

Human bronchial epithelial cells from patients with asthma have an altered gene expression profile (2022)
Journal Article
Bhaker, S., Portelli, M. A., Rakkar, K., Shaw, D., Johnson, S., Brightling, C., & Sayers, I. (2022). Human bronchial epithelial cells from patients with asthma have an altered gene expression profile. ERJ Open Research, 8(1), Article 0625-2021. https://doi.org/10.1183/23120541.00625-2021Published21February2022

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., Hayden, L. P., Chu, S. H., Koskela, J. T., Luan, J., Li, X., Terzikhan, N., Xu, H., Bartz, T. M., Petersen, H., Leng, S., Belinsky, S. A., Cepelis, A., Hernández Cordero, A. I., Obeidat, M., …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 as... Read More about Genetic Associations and Architecture of Asthma-COPD Overlap.