Title: Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
Authors: Cordell, Heather J ×
Töpf, Ana
Mamasoula, Chrysovalanto
Postma, Alex V
Bentham, Jamie
Zelenika, Diana
Heath, Simon
Blue, Gillian
Cosgrove, Catherine
Granados Riveron, Javier
Darlay, Rebecca
Soemedi, Rachel
Wilson, Ian J
Ayers, Kristin L
Rahman, Thahira J
Hall, Darroch
Mulder, Barbara J M
Zwinderman, Aelko H
van Engelen, Klaartje
Brook, J David
Setchfield, Kerry
Bu'lock, Frances A
Thornborough, Chris
O'Sullivan, John
Stuart, A Graham
Parsons, Jonathan
Bhattacharya, Shoumo
Winlaw, David
Mital, Seema
Gewillig, Marc
Breckpot, Jeroen
Devriendt, Koenraad
Moorman, Antoon F M
Rauch, Anita
Lathrop, G Mark
Keavney, Bernard D
Goodship, Judith A #
Issue Date: Apr-2013
Publisher: IRL Press
Series Title: Human molecular genetics vol:22 issue:7 pages:1473-81
Abstract: We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot, using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P=1.4×10(-7)) and replicated convincingly (P=3.9×10(-5)) in 798 cases and 2931 controls (per allele OR=1.27 in replication cohort, P=7.7×10(-11) in combined populations). SNPs in the glypican 5 gene (GPC5) on chromosome 13q32 were also associated (P=1.7×10(-7)) and replicated convincingly (P=1.2×10(-5)) in 789 cases and 2927 controls (per allele OR=1.31 in replication cohort, P=3.03×10(-11) in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of Tetralogy of Fallot.
ISSN: 0964-6906
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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