This study investigates the association between HLA genetic variants and IPF risk using a meta-analysis of seven case-control studies, finding no consistent HLA region associations.

ERJ Open Research · Dec 21, 2023Peer-reviewedGenetic & Genomic Medicine

A Genome-Wide Association Study of Survival in Patients with Sepsis

Tamara Hernández-Beeftink, Beatriz Guillén‐Guío, Jose Miguel Lorenzo-Salazar, Almudena Corrales, Eva Suarez-Pajes, Rui Feng, Luis A. Rubio‐Rodríguez, Megan L. Paynton, Raquel Cruz, M. Isabel García-Laorden, Miryam Prieto-González, Aurelio Rodríguez, Demetrio Carriedo, Jesús Blanco, Alfonso Ambrós, , the Genetics of Sepsis (GEN-SEP) Network

This paper conducts a genome-wide association study (GWAS) to identify genetic variants associated with 28-day survival in sepsis patients, finding three novel variants linked to reduced survival.

Critical Care · Nov 5, 2022Peer-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

Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis

Richard J. Allen, Beatriz Guillén‐Guío, Justin M. Oldham, Shwu‐Fan Ma, Amy Dressen, Megan L. Paynton, Luke M. Kraven, Ma’en Obeidat, Xuan Li, Michael Ng, Rebecca Braybrooke, María Molina‐Molina, Brian D. Hobbs, Rachel K. Putman, Phuwanat Sakornsakolpat, , Louise V. Wain

This study identifies three new genetic loci associated with idiopathic pulmonary fibrosis and confirms 11 previously reported ones, highlighting mTOR signaling and mitotic spindle-assembly genes in disease susceptibility.

American Journal of Respiratory and Critical Care Medicine · Nov 11, 2019Peer-reviewedGenomics

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