Polymorphism at rs9264942 is associated with HLA-C expression and inflammatory bowel disease in the Japanese.
Adolescent
Adult
Aged
Aged, 80 and over
Case-Control Studies
Colitis, Ulcerative
/ genetics
Crohn Disease
/ genetics
Female
Gene Expression Regulation
/ immunology
Genetic Predisposition to Disease
HLA-C Antigens
/ genetics
Haplotypes
Healthy Volunteers
Humans
Japan
Linkage Disequilibrium
/ immunology
Male
Middle Aged
Polymorphism, Single Nucleotide
Protective Factors
Quantitative Trait Loci
Retrospective Studies
Young Adult
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
24 07 2020
24 07 2020
Historique:
received:
30
04
2020
accepted:
08
07
2020
entrez:
26
7
2020
pubmed:
28
7
2020
medline:
22
12
2020
Statut:
epublish
Résumé
An expression quantitative trait locus (eQTL) single-nucleotide polymorphism (SNP) at rs9264942 was earlier associated with human leukocyte antigen (HLA)-C expression in Europeans. HLA-C has also been related to inflammatory bowel disease (IBD) risk in the Japanese. This study examined whether an eQTL SNP at rs9264942 could regulate HLA-C expression and whether four SNP haplotypes, including the eQTL SNP at rs9264942 and three SNPs at rs2270191, rs3132550, and rs6915986 of IBD risk carried in the HLA-C*12:02~B*52:01~DRB1*15:02 allele, were associated with IBD in the Japanese. HLA-C expression on CD3e
Identifiants
pubmed: 32709981
doi: 10.1038/s41598-020-69370-8
pii: 10.1038/s41598-020-69370-8
pmc: PMC7381613
doi:
Substances chimiques
HLA-C Antigens
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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