Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet's Disease.
Behcet Syndrome
/ genetics
Case-Control Studies
Chromosomes, Human, Pair 10
/ genetics
DNA, Intergenic
/ genetics
Epigenesis, Genetic
Female
Gain of Function Mutation
Gene Expression Regulation
Genetic Predisposition to Disease
Humans
Intercellular Signaling Peptides and Proteins
/ genetics
Lipopolysaccharides
Male
Monocytes
/ immunology
Polymorphism, Single Nucleotide
RNA, Long Noncoding
/ genetics
RNA, Messenger
/ metabolism
Receptors, Interferon
/ genetics
Interferon gamma Receptor
Journal
Arthritis & rheumatology (Hoboken, N.J.)
ISSN: 2326-5205
Titre abrégé: Arthritis Rheumatol
Pays: United States
ID NLM: 101623795
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
26
09
2020
accepted:
31
12
2020
pubmed:
5
1
2021
medline:
10
8
2021
entrez:
4
1
2021
Statut:
ppublish
Résumé
Behçet's disease is a complex systemic inflammatory vasculitis of incompletely understood etiology. This study was undertaken to investigate genetic associations with Behçet's disease in a diverse multiethnic population. A total of 9,444 patients and controls from 7 different populations were included in this study. Genotyping was performed using an Infinium ImmunoArray-24 v.1.0 or v.2.0 BeadChip. Analysis of expression data from stimulated monocytes, and epigenetic and chromatin interaction analyses were performed. We identified 2 novel genetic susceptibility loci for Behçet's disease, including a risk locus in IFNGR1 (rs4896243) (odds ratio [OR] 1.25; P = 2.42 × 10 We performed the largest genetic association study in Behçet's disease to date. Our findings reveal novel putative functional variants associated with the disease and replicate and extend the genetic associations in other loci across multiple ancestries.
Identifiants
pubmed: 33393726
doi: 10.1002/art.41637
pmc: PMC8238846
mid: NIHMS1682510
doi:
Substances chimiques
DKK1 protein, human
0
DNA, Intergenic
0
Intercellular Signaling Peptides and Proteins
0
Lipopolysaccharides
0
RNA, Long Noncoding
0
RNA, Messenger
0
Receptors, Interferon
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1244-1252Subventions
Organisme : NIGMS NIH HHS
ID : U54 GM104938
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI082714
Pays : United States
Organisme : NIAMS NIH HHS
ID : P30 AR053483
Pays : United States
Organisme : NIAMS NIH HHS
ID : P30 AR073750
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR070148
Pays : United States
Organisme : NIAID NIH HHS
ID : UM1 AI144292
Pays : United States
Informations de copyright
© 2021, American College of Rheumatology.
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