GWAS
SNP
cancer predisposition
coronary artery disease
neural crest cells
neuroblastoma
pleiotropic variants
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
12 01 2023
12 01 2023
Historique:
received:
30
08
2022
accepted:
31
10
2022
entrez:
25
11
2022
pubmed:
26
11
2022
medline:
26
11
2022
Statut:
epublish
Résumé
Pleiotropic genetic factors (e.g., DNA polymorphisms) may be involved in the initiation of neuroblastoma (NB) and coronary artery disease (CAD) given their common origin from defects in neural crest development. To discover novel NB susceptibility genes, we conducted a three-stage survey including a meta-analysis of NB and CAD genome-wide association data, prioritization of NB causal variants, and validation in an independent cohort of affected individuals-control subjects. The lead SNP, rs13337397 at the 16q23.1 locus, associated with both diseases in the meta-analysis and with NB in the validation study. All the SNPs in linkage disequilibrium with rs13337397 were annotated using the H3K27ac epigenetic marker of neural crest cells (NCC) and NB cell lines. Indeed, we identified the functional SNP rs13337017, mapping within an enhancer of NCCs and NB cell lines and showing long-range interactions with
Identifiants
pubmed: 36425957
doi: 10.1016/j.xhgg.2022.100158
pii: S2666-2477(22)00075-6
pmc: PMC9678964
doi:
Substances chimiques
Transcription Factors
0
Types de publication
Meta-Analysis
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Pagination
100158Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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