Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.
Adaptor Proteins, Signal Transducing
/ genetics
Adolescent
Adult
Aged
Ataxin-2
/ genetics
Celiac Disease
/ epidemiology
Child
Child, Preschool
Diabetes Mellitus
/ epidemiology
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Humans
Infant
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
/ genetics
Toll-Like Receptor 7
/ genetics
Toll-Like Receptor 8
/ genetics
Young Adult
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
30
06
2020
accepted:
01
12
2020
revised:
01
12
2020
pubmed:
16
1
2021
medline:
3
9
2021
entrez:
15
1
2021
Statut:
ppublish
Résumé
The phenotype of coeliac disease varies considerably for incompletely understood reasons. We investigated whether established coeliac disease susceptibility variants (SNPs) are individually or cumulatively associated with distinct phenotypes. We also tested whether a polygenic risk score (PRS) based on genome-wide associated (GWA) data could explain the phenotypic variation. The phenotypic association of 39 non-HLA coeliac disease SNPs was tested in 625 thoroughly phenotyped coeliac disease patients and 1817 controls. To assess their cumulative effects a weighted genetic risk score (wGRS39) was built, and stratified by tertiles. In our PRS model in cases, we took the summary statistics from the largest GWA study in coeliac disease and tested their association at eight P value thresholds (P
Identifiants
pubmed: 33446885
doi: 10.1038/s10038-020-00888-5
pii: 10.1038/s10038-020-00888-5
pmc: PMC8144013
doi:
Substances chimiques
ATXN2 protein, human
0
Adaptor Proteins, Signal Transducing
0
Ataxin-2
0
SH2B3 protein, human
0
TLR7 protein, human
0
TLR8 protein, human
0
Toll-Like Receptor 7
0
Toll-Like Receptor 8
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
613-623Références
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