Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk.
Association study
Enhancer
Pancreatic cancer
Single nucleotide polymorphism
Transcription factor binding site
Journal
Human genomics
ISSN: 1479-7364
Titre abrégé: Hum Genomics
Pays: England
ID NLM: 101202210
Informations de publication
Date de publication:
02 Feb 2024
02 Feb 2024
Historique:
received:
09
11
2023
accepted:
23
01
2024
medline:
3
2
2024
pubmed:
3
2
2024
entrez:
3
2
2024
Statut:
epublish
Résumé
Genome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can help risk stratification and prevention strategies against pancreatic ductal adenocarcinoma (PDAC). However, the strict significance threshold commonly used makes it likely that many true risk loci are missed. Functional annotation of GWAS polymorphisms is a proven strategy to identify additional risk loci. We aimed to investigate single-nucleotide polymorphisms (SNP) in regulatory regions [transcription factor binding sites (TFBSs) and enhancers] that could change the expression profile of multiple genes they act upon and thereby modify PDAC risk. We analyzed a total of 12,636 PDAC cases and 43,443 controls from PanScan/PanC4 and the East Asian GWAS (discovery populations), and the PANDoRA consortium (replication population). We identified four associations that reached study-wide statistical significance in the overall meta-analysis: rs2472632(A) (enhancer variant, OR 1.10, 95%CI 1.06,1.13, p = 5.5 × 10
Identifiants
pubmed: 38308339
doi: 10.1186/s40246-024-00576-x
pii: 10.1186/s40246-024-00576-x
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
12Subventions
Organisme : National Institute for Cancer Research - NICR (Programme EXCELES)
ID : LX22NPO5102
Organisme : National Institute for Cancer Research - NICR (Programme EXCELES)
ID : LX22NPO5102
Organisme : National Institute for Cancer Research - NICR (Programme EXCELES)
ID : LX22NPO5102
Organisme : National Institute for Cancer Research - NICR (Programme EXCELES)
ID : LX22NPO5102
Organisme : National Institute for Cancer Research - NICR (Programme EXCELES)
ID : LX22NPO5102
Informations de copyright
© 2024. The Author(s).
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