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Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

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, Koen ; Moorman, Antoon F.M. ; Rauch, Anita ; Lathrop, G. Mark ; Keavney, Bernard D. ; Goodship, Judith A.

In: Human Molecular Genetics, 2013, vol. 22, no. 7, p. 1473-1481

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    Titre
    • Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
    Auteur
    • Cordell, Heather J.. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Töpf, Ana. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Mamasoula, Chrysovalanto. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Postma, Alex V.. Academic Medical Center, Amsterdam, The Netherlands
    • Bentham, Jamie. Department of Cardiovascular Medicine, Oxford University, Oxford OX1 2JD, UK
    • Zelenika, Diana. Institut Genomique, Centre National de Genotypage, Commisariat à l'énergie Atomique (CEA), Evry, France
    • Heath, Simon. Institut Genomique, Centre National de Genotypage, Commisariat à l'énergie Atomique (CEA), Evry, France
    • Blue, Gillian. The Children's Hospital at Westmead, Westmead, New South Wales, Australia
    • Cosgrove, Catherine. Department of Cardiovascular Medicine, Oxford University, Oxford OX1 2JD, UK
    • Granados Riveron, Javier. Institute of Genetics, Nottingham University, Nottingham NG7 2RD, UK
    • Darlay, Rebecca. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Soemedi, Rachel. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Wilson, Ian J.. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Ayers, Kristin L.. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Rahman, Thahira J.. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Hall, Darroch. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Mulder, Barbara J.M.. Academic Medical Center, Amsterdam, The Netherlands
    • Zwinderman, Aelko H.. Academic Medical Center, Amsterdam, The Netherlands
    • van Engelen, Klaartje. Academic Medical Center, Amsterdam, The Netherlands
    • Brook, J. David. Institute of Genetics, Nottingham University, Nottingham NG7 2RD, UK
    • Setchfield, Kerry. Institute of Genetics, Nottingham University, Nottingham NG7 2RD, UK
    • Bu'Lock, Frances A.. University Hospitals of Leicester NHS Trust, Leicester, UK
    • Thornborough, Chris. University Hospitals of Leicester NHS Trust, Leicester, UK
    • O'Sullivan, John. Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK
    • Stuart, A. Graham. Bristol Royal Hospital for Children, Bristol, UK
    • Parsons, Jonathan. Leeds Teaching Hospitals NHS Trust, Leeds, UK
    • Bhattacharya, Shoumo. Department of Cardiovascular Medicine, Oxford University, Oxford OX1 2JD, UK
    • Winlaw, David. The Children's Hospital at Westmead, Westmead, New South Wales, Australia
    • Mital, Seema. Hospital for Sick Children, Toronto, Canada
    • Gewillig, Marc. Department of Pediatric Cardiology
    • Breckpot, Jeroen. Center for Human Genetics, University of Leuven, Leuven 3000, Belgium and
    • Devriendt, Koen. Center for Human Genetics, University of Leuven, Leuven 3000, Belgium and
    • Moorman, Antoon F.M.. Academic Medical Center, Amsterdam, The Netherlands
    • Rauch, Anita. Institute of Medical Genetics, University of Zurich, Zurich 8006, Switzerland
    • Lathrop, G. Mark. Institut Genomique, Centre National de Genotypage, Commisariat à l'énergie Atomique (CEA), Evry, France
    • Keavney, Bernard D.. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    • Goodship, Judith A.. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Human Molecular Genetics, 2013, vol. 22, no. 7, p. 1473-1481. Oxford University Press
    Autre version électronique
    Classification
    • Santé
    Identifiant OAI-PMH
    • oai:doc.rero.ch:296048
    Summary
    We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), 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 odds ratio (OR) = 1.27 in replication cohort, P = 7.7 × 10−11 in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene 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 TOF