Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Journal
Communications biology
ISSN: 2399-3642
Titre abrégé: Commun Biol
Pays: England
ID NLM: 101719179
Informations de publication
Date de publication:
23 03 2021
23 03 2021
Historique:
received:
10
09
2020
accepted:
24
02
2021
entrez:
24
3
2021
pubmed:
25
3
2021
medline:
11
8
2021
Statut:
epublish
Résumé
Idiopathic pulmonary fibrosis (IPF) is a fatal disorder characterised by progressive, destructive lung scarring. Despite substantial progress, the genetic determinants of this disease remain incompletely defined. Using whole genome and whole exome sequencing data from 752 individuals with sporadic IPF and 119,055 UK Biobank controls, we performed a variant-level exome-wide association study (ExWAS) and gene-level collapsing analyses. Our variant-level analysis revealed a novel association between a rare missense variant in SPDL1 and IPF (NM_017785.5:g.169588475 G > A p.Arg20Gln; p = 2.4 × 10
Identifiants
pubmed: 33758299
doi: 10.1038/s42003-021-01910-y
pii: 10.1038/s42003-021-01910-y
pmc: PMC7988141
doi:
Substances chimiques
Cell Cycle Proteins
0
SPDL1 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
392Subventions
Organisme : Medical Research Council
ID : MC_PC_17228
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_QA137853
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom
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