Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study.
autoimmunity
lupus erythematosus, systemic
polymorphism, genetic
Journal
Annals of the rheumatic diseases
ISSN: 1468-2060
Titre abrégé: Ann Rheum Dis
Pays: England
ID NLM: 0372355
Informations de publication
Date de publication:
24 May 2022
24 May 2022
Historique:
received:
12
02
2022
accepted:
11
05
2022
entrez:
24
5
2022
pubmed:
25
5
2022
medline:
25
5
2022
Statut:
aheadofprint
Résumé
Genome-wide association studies (GWAS) have identified >100 risk loci for systemic lupus erythematosus (SLE), but the disease genes at most loci remain unclear, hampering translation of these genetic discoveries. We aimed to prioritise genes underlying the 110 SLE loci that were identified in the latest East Asian GWAS meta-analysis. We built gene expression predictive models in blood B cells, CD4 TWAS identified 171 genes for SLE (p<1.0×10 Cell-level TWAS in six types of immune cells complemented SLE gene discovery and guided the identification of novel genetic associations. The gene findings shed biological insights into SLE genetic associations.
Identifiants
pubmed: 35609976
pii: annrheumdis-2022-222345
doi: 10.1136/annrheumdis-2022-222345
pmc: PMC9380500
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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