Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.
congenital
genome-wide association study
heart defects
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
01 07 2021
01 07 2021
Historique:
received:
27
04
2021
revised:
22
06
2021
accepted:
30
06
2021
entrez:
6
8
2021
pubmed:
7
8
2021
medline:
1
2
2022
Statut:
epublish
Résumé
Conotruncal defects with normally related great vessels (CTD-NRGVs) occur in both patients with and without 22q11.2 deletion syndrome (22q11.2DS), but it is unclear to what extent the genetically complex etiologies of these heart defects may overlap across these two groups, potentially involving variation within and/or outside of the 22q11.2 region. To explore this potential overlap, we conducted genome-wide SNP-level, gene-level, and gene set analyses using common variants, separately in each of five cohorts, including two with 22q11.2DS (
Identifiants
pubmed: 34356046
pii: genes12071030
doi: 10.3390/genes12071030
pmc: PMC8306129
pii:
doi:
Banques de données
ClinicalTrials.gov
['NCT01196182']
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIMH NIH HHS
ID : U01 MH101720
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098123
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007491
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL131003
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098147
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098163
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000003
Pays : United States
Organisme : NICHD NIH HHS
ID : R21 HD060309
Pays : United States
Organisme : NICHD NIH HHS
ID : P01 HD070454
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD042974
Pays : United States
Organisme : NHLBI NIH HHS
ID : R21 HL118637
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL084410
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG006504
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098162
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH059030
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098166
Pays : United States
Organisme : NCRR NIH HHS
ID : M01 RR000240
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098153
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098188
Pays : United States
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