Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
27 07 2022
27 07 2022
Historique:
received:
27
09
2021
accepted:
17
05
2022
entrez:
27
7
2022
pubmed:
28
7
2022
medline:
30
7
2022
Statut:
epublish
Résumé
Sjögren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.
Identifiants
pubmed: 35896530
doi: 10.1038/s41467-022-30773-y
pii: 10.1038/s41467-022-30773-y
pmc: PMC9329286
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
4287Subventions
Organisme : NIAMS NIH HHS
ID : R01 AR073855
Pays : United States
Organisme : NIDCR NIH HHS
ID : R21 DE029303
Pays : United States
Organisme : Department of Health
Pays : United Kingdom
Commentaires et corrections
Type : ErratumIn
Type : ErratumIn
Informations de copyright
© 2022. The Author(s).
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