Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Wnt-5a protein
congenital heart disease
genome-wide association study
single nucleotide polymorphism
transposition of great vessels
Journal
Circulation research
ISSN: 1524-4571
Titre abrégé: Circ Res
Pays: United States
ID NLM: 0047103
Informations de publication
Date de publication:
21 01 2022
21 01 2022
Historique:
pubmed:
11
12
2021
medline:
25
2
2022
entrez:
10
12
2021
Statut:
ppublish
Résumé
Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10 This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 near
Identifiants
pubmed: 34886679
doi: 10.1161/CIRCRESAHA.120.317107
pmc: PMC8768504
doi:
Substances chimiques
T-Box Domain Proteins
0
TBX20 protein, human
0
WNT5A protein, human
0
Wnt-5a Protein
0
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
Pagination
166-180Subventions
Organisme : NHLBI NIH HHS
ID : U01 HL098123
Pays : United States
Organisme : Medical Research Council
ID : MC_PC_17115
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : U01 HL098163
Pays : United States
Organisme : Medical Research Council
ID : G1100695
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_G1000733
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : SHAW/NOV14/985-797
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/F/21/110050
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : U01 HL131003
Pays : United States
Organisme : Medical Research Council
ID : MR/L021803/1
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U54 HG006504
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098162
Pays : United States
Organisme : Medical Research Council
ID : G0900635
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 076113
Pays : United Kingdom
Organisme : NICHD NIH HHS
ID : P01 HD070454
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098147
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098147
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000003
Pays : United States
Organisme : NCRR NIH HHS
ID : M01 RR000240
Pays : United States
Organisme : Wellcome Trust
ID : 090355
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R024804/1
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : UM1 HL128761
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL128711
Pays : United States
Organisme : British Heart Foundation
ID : RG/15/12/31616
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : UM1 HL098162
Pays : United States
Organisme : British Heart Foundation
ID : CH/13/2/30154
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : ALCHALABI-DOBSON/APR14/829-791
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 085475
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : UM1 HL098123
Pays : United States
Organisme : Medical Research Council
ID : G0500289
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : SHAW/APR15/970-797
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0900688
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : U01 HL098153
Pays : United States
Organisme : NHLBI NIH HHS
ID : P50 HL074731
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098188
Pays : United States
Commentaires et corrections
Type : CommentIn
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