This paper identifies novel associations between multiallelic copy number variations and disease traits using UK Biobank data, highlighting potential causal variants and mechanisms.

medRxiv · Jun 4, 2026 · PreprintGenetic & Genomic Medicine

The role of the ADRB2 Thr164Ile variant in lung function determination, plasma proteome variability and other phenotypes in UK Biobank

Katherine A. Fawcett, Robert J Hall, Richard J. Packer, Kayesha Coley, Nick R. G. Shrine, Louise V. Wain, Martin D. Tobin, Ian P. Hall

The paper investigates the effects of the ADRB2 Thr164Ile variant on lung function, plasma proteome, and other traits using UK Biobank data, finding associations with immune and lipid metabolism pathways but not COPD or asthma.

ERJ Open Research · May 22, 2025Peer-reviewedGenetic & Genomic Medicine

Asthma exacerbations and eosinophilia in the UK Biobank: a Genome-Wide Association Study

Ahmed Edris, Kirsten R. Voorhies, Sharon Marie Lutz, Carlos Iribarren, Ian P. Hall, Ann Chen Wu, Martin D. Tobin, Katherine A. Fawcett, Lies Lahousse

This study performs a GWAS on asthma exacerbations in the UK Biobank, identifying two novel genetic loci associated with exacerbation risk in individuals with asthma.

ERJ Open Research · Dec 15, 2023Peer-reviewedGenetic & Genomic Medicine

Multi-ancestry genome-wide association study improves resolution of genes, pathways and pleiotropy for lung function and chronic obstructive pulmonary disease

Nick R. G. Shrine, Abril G. Izquierdo, Jing Chen, Richard J. Packer, Robert J. Hall, Anna L. Guyatt, Chiara Batini, Rebecca J. Thompson, Chandan K Pavuluri, Vidhi Malik, Brian D. Hobbs, Matthew R. Moll, Wonji Kim, Ruth Tal‐Singer, Per Sigvald Bakke, , Data Management and Computing Infrastructure group

This study performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

Nature Genetics · Mar 1, 2023Peer-reviewedGenetic & Genomic Medicine

DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies.

Richard J. Packer, Alex Williams, William Hennah, Micaela Eisenberg, Nick R. G. Shrine, Katherine A. Fawcett, Willow Pearson, Anna L. Guyatt, Ahmed Edris, Edward J. Hollox, Mikko Marttila, Balasubramanya Seetharama Rao, John Raymond Bratty, Louise V. Wain, Frank Dudbridge, Martin D. Tobin

DeepPheWAS creates composite phenotypes and performs association analysis for phenome-wide studies using genetic inputs and various models.

Bioinformatics · Feb 4, 2023Peer-reviewedGenetic & Genomic Medicine

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

Katherine A. Fawcett, German M. Demidov, Nick R. G. Shrine, Megan L. Paynton, Stephan Ossowski, Ian Sayers, Louise V. Wain, Edward J. Hollox

The paper identifies two independent asthma-associated loci in the HLA region using exome-wide CNV analysis in UK Biobank, highlighting challenges with CNV detection in complex genomic regions.

BMC Medical Genomics · May 21, 2022Peer-reviewedGenetic & Genomic Medicine

Pleiotropic effects of heterozygosity for the SERPINA1 Z allele in the UK Biobank

Katherine A. Fawcett, Kijoung S Song, Guoqing Qian, Aliki‐Eleni Farmaki, Richard J. Packer, Catherine John, Nick R. G. Shrine, Raquel Granell, Susan M. Ring, Nicholas John Timpson, Laura M. Yerges-Armstrong, Richard Eastell, Louise V. Wain, Robert A Scott, Martin D. Tobin, Ian P. Hall

This study investigates the pleiotropic effects of SERPINA1 Z allele heterozygosity on various phenotypes using UK Biobank data, finding associations with height, gall bladder disease, heart disease, and lung function.

ERJ Open Research · Mar 18, 2021Peer-reviewedGenetic & Genomic Medicine

SNPs associated with HHIP expression have differential effects on lung function in males and females

Katherine A. Fawcett, Ma’en Obeidat, Carl Melbourne, Nick R. G. Shrine, Anna L. Guyatt, Catherine John, Jian’an Luan, Anne Richmond, Marta Riise Moksnes, Raquel Granell, Stefan Weiß, Medea Imboden, Sebastian May-Wilson, Pirro G. Hysi, Thibaud Boutin, , Louise V. Wain

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.

Wellcome Open Research · Jun 1, 2020Peer-reviewedGenetics

New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries

Nick R. G. Shrine, Anna L. Guyatt, Abdullah Mesut Erzurumluoglu, Victoria E. Jackson, Brian D. Hobbs, Carl Melbourne, Chiara Batini, Katherine A. Fawcett, Kijoung S Song, Phuwanat Sakornsakolpat, Xingnan Li, Ruth Boxall, Nicola F. Reeve, Ma’en Obeidat, Jing Hua Zhao, , Andrew P. Morris

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

Nature Genetics · Feb 25, 2019Peer-reviewedGenomics