Communications Biology (Mar 2021)
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
- Ryan S. Dhindsa,
- Johan Mattsson,
- Abhishek Nag,
- Quanli Wang,
- Louise V. Wain,
- Richard Allen,
- Eleanor M. Wigmore,
- Kristina Ibanez,
- Dimitrios Vitsios,
- Sri V. V. Deevi,
- Sebastian Wasilewski,
- Maria Karlsson,
- Glenda Lassi,
- Henric Olsson,
- Daniel Muthas,
- Susan Monkley,
- Alex Mackay,
- Lynne Murray,
- Simon Young,
- Carolina Haefliger,
- FinnGen Consortium,
- Toby M. Maher,
- Maria G. Belvisi,
- Gisli Jenkins,
- Philip L. Molyneaux,
- Adam Platt,
- Slavé Petrovski
Affiliations
- Ryan S. Dhindsa
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- Johan Mattsson
- Translational Science & Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Abhishek Nag
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- Quanli Wang
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- Louise V. Wain
- Genetic Epidemiology Group, Department of Health Sciences George Davies Centre, University of Leicester
- Richard Allen
- Genetic Epidemiology Group, Department of Health Sciences George Davies Centre, University of Leicester
- Eleanor M. Wigmore
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- Kristina Ibanez
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- Dimitrios Vitsios
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- Sri V. V. Deevi
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- Sebastian Wasilewski
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- Maria Karlsson
- Lung Regeneration, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Glenda Lassi
- Translational Science & Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Henric Olsson
- Translational Science & Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Daniel Muthas
- Translational Science & Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Susan Monkley
- Translational Science & Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Alex Mackay
- Translational Science & Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Lynne Murray
- Lung Regeneration, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Simon Young
- Precision Medicine and Biosamples, Oncology R&D, AstraZeneca
- Carolina Haefliger
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- FinnGen Consortium
- Toby M. Maher
- Royal Brompton Hospital
- Maria G. Belvisi
- National Heart and Lung Institute, Imperial College
- Gisli Jenkins
- Respiratory Research Unit, Division of Respiratory Medicine, University of Nottingham
- Philip L. Molyneaux
- Royal Brompton Hospital
- Adam Platt
- Translational Science & Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca
- Slavé Petrovski
- Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
- DOI
- https://doi.org/10.1038/s42003-021-01910-y
- Journal volume & issue
-
Vol. 4,
no. 1
pp. 1 – 8
Abstract
Ryan Dhindsa et al. conducted an exome-wide association study to identify a rare variant in SPDL1 as a risk factor for idiopathic pulmonary fibrosis (IPF). Their findings implicate mitotic checkpoint signalling as a new mechanism underlying IPF.
