First genome-wide association study of esophageal atresia identifies three genetic risk loci at
CTNNA3
FOXF1/FOXC2/FOXL1
HNF1B
esophageal atresia (EA)
genome-wide association study (GWAS)
multifactorial diseases
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
14 Apr 2022
14 Apr 2022
Historique:
received:
25
10
2021
accepted:
20
01
2022
entrez:
24
2
2022
pubmed:
25
2
2022
medline:
25
2
2022
Statut:
epublish
Résumé
Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene
Identifiants
pubmed: 35199045
doi: 10.1016/j.xhgg.2022.100093
pii: S2666-2477(22)00009-4
pmc: PMC8844277
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100093Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
The co-author C.M.B. declares the following interests: Shire (grant recipient, Scientific Advisory Board member), Idorsia (consultant), Lundbeckfonden (grant recipient), Pearson (author, royalty recipient), and Equip Health Inc. (Clinical Advisory Board). All other co-authors declare no competing interests.
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