Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study.
Angina
Genome-wide association study
Hypertension
Intracranial artery stenosis
Phenome-wide association study
RNF213
Journal
Translational stroke research
ISSN: 1868-601X
Titre abrégé: Transl Stroke Res
Pays: United States
ID NLM: 101517297
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
received:
20
04
2021
accepted:
06
06
2022
revised:
08
02
2022
medline:
8
5
2023
pubmed:
15
6
2022
entrez:
14
6
2022
Statut:
ppublish
Résumé
The genetic background of intracranial artery stenosis (ICAS), a major cause of ischemic stroke, remains elusive. We performed the world's first genome-wide association study (GWAS) of ICAS using DNA samples from Japanese subjects, to identify the genetic factors associated with ICAS and their correlation with clinical features. We also conducted a phenome-wide association study (PheWAS) of the top variant identified via GWAS to determine its association with systemic disease. The GWAS involved 408 patients with ICAS and 349 healthy controls and utilized an Asian Screening Array of venous blood samples. The PheWAS was performed using genotypic and phenotypic data of the Biobank Japan Project, which contained information on 46 diseases and 60 quantitative trait data from > 150,000 Japanese individuals. The GWAS revealed that the East Asian-specific functional variant of RNF213, rs112735431 (c.14429G > A, p.Arg4810Lys), was associated with ICAS (odds ratio, 12.3; 95% CI 5.5 to 27.5; P = 7.8 × 10
Identifiants
pubmed: 35701560
doi: 10.1007/s12975-022-01049-w
pii: 10.1007/s12975-022-01049-w
doi:
Substances chimiques
RNF213 protein, human
EC 2.3.2.27
Adenosine Triphosphatases
EC 3.6.1.-
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
322-333Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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