Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Identifieur interne : 000F54 ( Ncbi/Checkpoint ); précédent : 000F53; suivant : 000F55Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Auteurs : Rachel Soemedi [Royaume-Uni] ; Ian J. Wilson [Royaume-Uni] ; Jamie Bentham [Royaume-Uni] ; Rebecca Darlay [Royaume-Uni] ; Ana Töpf [Royaume-Uni] ; Diana Zelenika [France] ; Catherine Cosgrove [Royaume-Uni] ; Kerry Setchfield [Royaume-Uni] ; Chris Thornborough [Royaume-Uni] ; Javier Granados-Riveron [Royaume-Uni] ; Gillian M. Blue [Australie] ; Jeroen Breckpot [Belgique] ; Stephen Hellens [Royaume-Uni] ; Simon Zwolinkski [Royaume-Uni] ; Elise Glen [Royaume-Uni] ; Chrysovalanto Mamasoula [Royaume-Uni] ; Thahira J. Rahman [Royaume-Uni] ; Darroch Hall [Royaume-Uni] ; Anita Rauch [Suisse] ; Koenraad Devriendt [Belgique] ; Marc Gewillig [Belgique] ; John O Ullivan [Royaume-Uni] ; David S. Winlaw [Australie] ; Frances Bu Ock [Royaume-Uni] ; J. David Brook [Royaume-Uni] ; Shoumo Bhattacharya [Royaume-Uni] ; Mark Lathrop [France] ; Mauro Santibanez-Koref [Royaume-Uni] ; Heather J. Cordell [Royaume-Uni] ; Judith A. Goodship [Royaume-Uni] ; Bernard D. Keavney [Royaume-Uni]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2012.
Abstract
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart disease (CHD) remains incompletely defined. We generated genome-wide CNV data by using Illumina 660W-Quad SNP arrays in 2,256 individuals with CHD, 283 trio CHD-affected families, and 1,538 controls. We found association of rare genic deletions with CHD risk (odds ratio [OR] = 1.8, p = 0.0008). Rare deletions in study participants with CHD had higher gene content (p = 0.001) with higher haploinsufficiency scores (p = 0.03) than they did in controls, and they were enriched with Wnt-signaling genes (p = 1 × 10−5). Recurrent 15q11.2 deletions were associated with CHD risk (OR = 8.2, p = 0.02). Rare de novo CNVs were observed in ∼5% of CHD trios; 10 out of 11 occurred on the paternally transmitted chromosome (p = 0.01). Some of the rare de novo CNVs spanned genes known to be involved in heart development (e.g.,
Url:
DOI: 10.1016/j.ajhg.2012.08.003
PubMed: 22939634
PubMed Central: 3511986
Affiliations:
- Australie, Belgique, France, Royaume-Uni, Suisse
- Angleterre, Canton de Zurich, Nottinghamshire, Oxfordshire, Île-de-France
- Nottingham, Oxford, Paris, Zurich
- Université d'Oxford, Université de Nottingham, Université de Zurich
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Rahman</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="4"><nlm:aff id="aff10">Institute of Medical Genetics, University of Zurich, Zurich-Schwerzenbach CH-8603, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zurich, Zurich-Schwerzenbach CH-8603</wicri:regionArea><orgName type="university">Université de Zurich</orgName><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation wicri:level="1"><nlm:aff id="aff8">Centre for Human Genetics, University Hospital Leuven, Leuven B-3000, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Human Genetics, University Hospital Leuven, Leuven B-3000</wicri:regionArea><wicri:noRegion>Leuven B-3000</wicri:noRegion></affiliation></author><author><name sortKey="Gewillig, Marc" sort="Gewillig, Marc" uniqKey="Gewillig M" first="Marc" last="Gewillig">Marc Gewillig</name><affiliation wicri:level="1"><nlm:aff id="aff11">Paediatric Cardiology, University of Leuven, Leuven B-3000, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Paediatric Cardiology, University of Leuven, Leuven B-3000</wicri:regionArea><wicri:noRegion>Leuven B-3000</wicri:noRegion></affiliation></author><author><name sortKey="O Ullivan, John" sort="O Ullivan, John" uniqKey="O Ullivan J" first="John" last="O Ullivan">John O Ullivan</name><affiliation wicri:level="1"><nlm:aff id="aff12">Paediatric Cardiology, Newcastle upon Tyne Hospitals, National Health Service Foundation Trust, Freeman Hospital, Newcastle upon Tyne NE7 7DN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Cardiology, Newcastle upon Tyne Hospitals, National Health Service Foundation Trust, Freeman Hospital, Newcastle upon Tyne NE7 7DN</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE7 7DN</wicri:noRegion></affiliation></author><author><name sortKey="Winlaw, David S" sort="Winlaw, David S" uniqKey="Winlaw D" first="David S." last="Winlaw">David S. Winlaw</name><affiliation wicri:level="1"><nlm:aff id="aff7">Heart Centre for Children, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Heart Centre for Children, The Children’s Hospital at Westmead, Sydney NSW 2145</wicri:regionArea><wicri:noRegion>Sydney NSW 2145</wicri:noRegion></affiliation></author><author><name sortKey="Bu Ock, Frances" sort="Bu Ock, Frances" uniqKey="Bu Ock F" first="Frances" last="Bu Ock">Frances Bu Ock</name><affiliation wicri:level="1"><nlm:aff id="aff6">East Midlands Congenital Heart Centre, Glenfield Hospital, Leicester LE3 9QP, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>East Midlands Congenital Heart Centre, Glenfield Hospital, Leicester LE3 9QP</wicri:regionArea><wicri:noRegion>Leicester LE3 9QP</wicri:noRegion></affiliation></author><author><name sortKey="Brook, J David" sort="Brook, J David" uniqKey="Brook J" first="J. David" last="Brook">J. David Brook</name><affiliation wicri:level="4"><nlm:aff id="aff5">School of Biology, University of Nottingham, Nottingham, NG7 2UH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Biology, University of Nottingham, Nottingham, NG7 2UH</wicri:regionArea><orgName type="university">Université de Nottingham</orgName><placeName><settlement type="city">Nottingham</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Nottinghamshire</region></placeName></affiliation></author><author><name sortKey="Bhattacharya, Shoumo" sort="Bhattacharya, Shoumo" uniqKey="Bhattacharya S" first="Shoumo" last="Bhattacharya">Shoumo Bhattacharya</name><affiliation wicri:level="4"><nlm:aff id="aff2">Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN</wicri:regionArea><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation wicri:level="1"><nlm:aff id="aff3">Commissariat à l’Energie Atomique, Centre National de Génotypage, 91057 Evry Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Commissariat à l’Energie Atomique, Centre National de Génotypage, 91057 Evry Cedex</wicri:regionArea><wicri:noRegion>91057 Evry Cedex</wicri:noRegion><wicri:noRegion>91057 Evry Cedex</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff4">Ceph Fondation Jean Dausset, 75010 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Ceph Fondation Jean Dausset, 75010 Paris</wicri:regionArea><wicri:noRegion>75010 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Cordell, Heather J" sort="Cordell, Heather J" uniqKey="Cordell H" first="Heather J." last="Cordell">Heather J. Cordell</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Goodship, Judith A" sort="Goodship, Judith A" uniqKey="Goodship J" first="Judith A." last="Goodship">Judith A. 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Keavney</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22939634</idno><idno type="pmc">3511986</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511986</idno><idno type="RBID">PMC:3511986</idno><idno type="doi">10.1016/j.ajhg.2012.08.003</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001682</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001682</idno><idno type="wicri:Area/Pmc/Curation">001542</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001542</idno><idno type="wicri:Area/Pmc/Checkpoint">001F93</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001F93</idno><idno type="wicri:Area/Ncbi/Merge">000F54</idno><idno type="wicri:Area/Ncbi/Curation">000F54</idno><idno type="wicri:Area/Ncbi/Checkpoint">000F54</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease</title><author><name sortKey="Soemedi, Rachel" sort="Soemedi, Rachel" uniqKey="Soemedi R" first="Rachel" last="Soemedi">Rachel Soemedi</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Wilson, Ian J" sort="Wilson, Ian J" uniqKey="Wilson I" first="Ian J." last="Wilson">Ian J. Wilson</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Bentham, Jamie" sort="Bentham, Jamie" uniqKey="Bentham J" first="Jamie" last="Bentham">Jamie Bentham</name><affiliation wicri:level="4"><nlm:aff id="aff2">Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN</wicri:regionArea><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Darlay, Rebecca" sort="Darlay, Rebecca" uniqKey="Darlay R" first="Rebecca" last="Darlay">Rebecca Darlay</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Topf, Ana" sort="Topf, Ana" uniqKey="Topf A" first="Ana" last="Töpf">Ana Töpf</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation wicri:level="1"><nlm:aff id="aff3">Commissariat à l’Energie Atomique, Centre National de Génotypage, 91057 Evry Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Commissariat à l’Energie Atomique, Centre National de Génotypage, 91057 Evry Cedex</wicri:regionArea><wicri:noRegion>91057 Evry Cedex</wicri:noRegion><wicri:noRegion>91057 Evry Cedex</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff4">Ceph Fondation Jean Dausset, 75010 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Ceph Fondation Jean Dausset, 75010 Paris</wicri:regionArea><wicri:noRegion>75010 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Cosgrove, Catherine" sort="Cosgrove, Catherine" uniqKey="Cosgrove C" first="Catherine" last="Cosgrove">Catherine Cosgrove</name><affiliation wicri:level="4"><nlm:aff id="aff2">Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN</wicri:regionArea><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Setchfield, Kerry" sort="Setchfield, Kerry" uniqKey="Setchfield K" first="Kerry" last="Setchfield">Kerry Setchfield</name><affiliation wicri:level="4"><nlm:aff id="aff5">School of Biology, University of Nottingham, Nottingham, NG7 2UH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Biology, University of Nottingham, Nottingham, NG7 2UH</wicri:regionArea><orgName type="university">Université de Nottingham</orgName><placeName><settlement type="city">Nottingham</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Nottinghamshire</region></placeName></affiliation></author><author><name sortKey="Thornborough, Chris" sort="Thornborough, Chris" uniqKey="Thornborough C" first="Chris" last="Thornborough">Chris Thornborough</name><affiliation wicri:level="1"><nlm:aff id="aff6">East Midlands Congenital Heart Centre, Glenfield Hospital, Leicester LE3 9QP, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>East Midlands Congenital Heart Centre, Glenfield Hospital, Leicester LE3 9QP</wicri:regionArea><wicri:noRegion>Leicester LE3 9QP</wicri:noRegion></affiliation></author><author><name sortKey="Granados Riveron, Javier" sort="Granados Riveron, Javier" uniqKey="Granados Riveron J" first="Javier" last="Granados-Riveron">Javier Granados-Riveron</name><affiliation wicri:level="4"><nlm:aff id="aff5">School of Biology, University of Nottingham, Nottingham, NG7 2UH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Biology, University of Nottingham, Nottingham, NG7 2UH</wicri:regionArea><orgName type="university">Université de Nottingham</orgName><placeName><settlement type="city">Nottingham</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Nottinghamshire</region></placeName></affiliation></author><author><name sortKey="Blue, Gillian M" sort="Blue, Gillian M" uniqKey="Blue G" first="Gillian M." last="Blue">Gillian M. Blue</name><affiliation wicri:level="1"><nlm:aff id="aff7">Heart Centre for Children, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Heart Centre for Children, The Children’s Hospital at Westmead, Sydney NSW 2145</wicri:regionArea><wicri:noRegion>Sydney NSW 2145</wicri:noRegion></affiliation></author><author><name sortKey="Breckpot, Jeroen" sort="Breckpot, Jeroen" uniqKey="Breckpot J" first="Jeroen" last="Breckpot">Jeroen Breckpot</name><affiliation wicri:level="1"><nlm:aff id="aff8">Centre for Human Genetics, University Hospital Leuven, Leuven B-3000, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Human Genetics, University Hospital Leuven, Leuven B-3000</wicri:regionArea><wicri:noRegion>Leuven B-3000</wicri:noRegion></affiliation></author><author><name sortKey="Hellens, Stephen" sort="Hellens, Stephen" uniqKey="Hellens S" first="Stephen" last="Hellens">Stephen Hellens</name><affiliation wicri:level="1"><nlm:aff id="aff9">Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Zwolinkski, Simon" sort="Zwolinkski, Simon" uniqKey="Zwolinkski S" first="Simon" last="Zwolinkski">Simon Zwolinkski</name><affiliation wicri:level="1"><nlm:aff id="aff9">Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Mamasoula, Chrysovalanto" sort="Mamasoula, Chrysovalanto" uniqKey="Mamasoula C" first="Chrysovalanto" last="Mamasoula">Chrysovalanto Mamasoula</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Rahman, Thahira J" sort="Rahman, Thahira J" uniqKey="Rahman T" first="Thahira J." last="Rahman">Thahira J. Rahman</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="4"><nlm:aff id="aff10">Institute of Medical Genetics, University of Zurich, Zurich-Schwerzenbach CH-8603, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zurich, Zurich-Schwerzenbach CH-8603</wicri:regionArea><orgName type="university">Université de Zurich</orgName><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation wicri:level="1"><nlm:aff id="aff8">Centre for Human Genetics, University Hospital Leuven, Leuven B-3000, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Human Genetics, University Hospital Leuven, Leuven B-3000</wicri:regionArea><wicri:noRegion>Leuven B-3000</wicri:noRegion></affiliation></author><author><name sortKey="Gewillig, Marc" sort="Gewillig, Marc" uniqKey="Gewillig M" first="Marc" last="Gewillig">Marc Gewillig</name><affiliation wicri:level="1"><nlm:aff id="aff11">Paediatric Cardiology, University of Leuven, Leuven B-3000, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Paediatric Cardiology, University of Leuven, Leuven B-3000</wicri:regionArea><wicri:noRegion>Leuven B-3000</wicri:noRegion></affiliation></author><author><name sortKey="O Ullivan, John" sort="O Ullivan, John" uniqKey="O Ullivan J" first="John" last="O Ullivan">John O Ullivan</name><affiliation wicri:level="1"><nlm:aff id="aff12">Paediatric Cardiology, Newcastle upon Tyne Hospitals, National Health Service Foundation Trust, Freeman Hospital, Newcastle upon Tyne NE7 7DN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Cardiology, Newcastle upon Tyne Hospitals, National Health Service Foundation Trust, Freeman Hospital, Newcastle upon Tyne NE7 7DN</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE7 7DN</wicri:noRegion></affiliation></author><author><name sortKey="Winlaw, David S" sort="Winlaw, David S" uniqKey="Winlaw D" first="David S." last="Winlaw">David S. Winlaw</name><affiliation wicri:level="1"><nlm:aff id="aff7">Heart Centre for Children, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Heart Centre for Children, The Children’s Hospital at Westmead, Sydney NSW 2145</wicri:regionArea><wicri:noRegion>Sydney NSW 2145</wicri:noRegion></affiliation></author><author><name sortKey="Bu Ock, Frances" sort="Bu Ock, Frances" uniqKey="Bu Ock F" first="Frances" last="Bu Ock">Frances Bu Ock</name><affiliation wicri:level="1"><nlm:aff id="aff6">East Midlands Congenital Heart Centre, Glenfield Hospital, Leicester LE3 9QP, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>East Midlands Congenital Heart Centre, Glenfield Hospital, Leicester LE3 9QP</wicri:regionArea><wicri:noRegion>Leicester LE3 9QP</wicri:noRegion></affiliation></author><author><name sortKey="Brook, J David" sort="Brook, J David" uniqKey="Brook J" first="J. David" last="Brook">J. David Brook</name><affiliation wicri:level="4"><nlm:aff id="aff5">School of Biology, University of Nottingham, Nottingham, NG7 2UH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Biology, University of Nottingham, Nottingham, NG7 2UH</wicri:regionArea><orgName type="university">Université de Nottingham</orgName><placeName><settlement type="city">Nottingham</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Nottinghamshire</region></placeName></affiliation></author><author><name sortKey="Bhattacharya, Shoumo" sort="Bhattacharya, Shoumo" uniqKey="Bhattacharya S" first="Shoumo" last="Bhattacharya">Shoumo Bhattacharya</name><affiliation wicri:level="4"><nlm:aff id="aff2">Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN</wicri:regionArea><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation wicri:level="1"><nlm:aff id="aff3">Commissariat à l’Energie Atomique, Centre National de Génotypage, 91057 Evry Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Commissariat à l’Energie Atomique, Centre National de Génotypage, 91057 Evry Cedex</wicri:regionArea><wicri:noRegion>91057 Evry Cedex</wicri:noRegion><wicri:noRegion>91057 Evry Cedex</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff4">Ceph Fondation Jean Dausset, 75010 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Ceph Fondation Jean Dausset, 75010 Paris</wicri:regionArea><wicri:noRegion>75010 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Cordell, Heather J" sort="Cordell, Heather J" uniqKey="Cordell H" first="Heather J." last="Cordell">Heather J. Cordell</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Goodship, Judith A" sort="Goodship, Judith A" uniqKey="Goodship J" first="Judith A." last="Goodship">Judith A. Goodship</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author><author><name sortKey="Keavney, Bernard D" sort="Keavney, Bernard D" uniqKey="Keavney B" first="Bernard D." last="Keavney">Bernard D. Keavney</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart disease (CHD) remains incompletely defined. We generated genome-wide CNV data by using Illumina 660W-Quad SNP arrays in 2,256 individuals with CHD, 283 trio CHD-affected families, and 1,538 controls. We found association of rare genic deletions with CHD risk (odds ratio [OR] = 1.8, p = 0.0008). Rare deletions in study participants with CHD had higher gene content (p = 0.001) with higher haploinsufficiency scores (p = 0.03) than they did in controls, and they were enriched with Wnt-signaling genes (p = 1 × 10<sup>−5</sup>). Recurrent 15q11.2 deletions were associated with CHD risk (OR = 8.2, p = 0.02). Rare de novo CNVs were observed in ∼5% of CHD trios; 10 out of 11 occurred on the paternally transmitted chromosome (p = 0.01). Some of the rare de novo CNVs spanned genes known to be involved in heart development (e.g., <italic>HAND2</italic> and <italic>GJA5</italic>). Rare genic deletions contribute ∼4% of the population-attributable risk of sporadic CHD. Second to previously described CNVs at 1q21.1, deletions at 15q11.2 and those implicating Wnt signaling are the most significant contributors to the risk of sporadic CHD. Rare de novo CNVs identified in CHD trios exhibit paternal origin bias.</p></div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>France</li><li>Royaume-Uni</li><li>Suisse</li></country><region><li>Angleterre</li><li>Canton de Zurich</li><li>Nottinghamshire</li><li>Oxfordshire</li><li>Île-de-France</li></region><settlement><li>Nottingham</li><li>Oxford</li><li>Paris</li><li>Zurich</li></settlement><orgName><li>Université d'Oxford</li><li>Université de Nottingham</li><li>Université de Zurich</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Soemedi, Rachel" sort="Soemedi, Rachel" uniqKey="Soemedi R" first="Rachel" last="Soemedi">Rachel Soemedi</name></noRegion><name sortKey="Bentham, Jamie" sort="Bentham, Jamie" uniqKey="Bentham J" first="Jamie" last="Bentham">Jamie Bentham</name><name sortKey="Bhattacharya, Shoumo" sort="Bhattacharya, Shoumo" uniqKey="Bhattacharya S" first="Shoumo" last="Bhattacharya">Shoumo Bhattacharya</name><name sortKey="Brook, J David" sort="Brook, J David" uniqKey="Brook J" first="J. David" last="Brook">J. David Brook</name><name sortKey="Bu Ock, Frances" sort="Bu Ock, Frances" uniqKey="Bu Ock F" first="Frances" last="Bu Ock">Frances Bu Ock</name><name sortKey="Cordell, Heather J" sort="Cordell, Heather J" uniqKey="Cordell H" first="Heather J." last="Cordell">Heather J. Cordell</name><name sortKey="Cosgrove, Catherine" sort="Cosgrove, Catherine" uniqKey="Cosgrove C" first="Catherine" last="Cosgrove">Catherine Cosgrove</name><name sortKey="Darlay, Rebecca" sort="Darlay, Rebecca" uniqKey="Darlay R" first="Rebecca" last="Darlay">Rebecca Darlay</name><name sortKey="Glen, Elise" sort="Glen, Elise" uniqKey="Glen E" first="Elise" last="Glen">Elise Glen</name><name sortKey="Goodship, Judith A" sort="Goodship, Judith A" uniqKey="Goodship J" first="Judith A." last="Goodship">Judith A. Goodship</name><name sortKey="Granados Riveron, Javier" sort="Granados Riveron, Javier" uniqKey="Granados Riveron J" first="Javier" last="Granados-Riveron">Javier Granados-Riveron</name><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name><name sortKey="Hellens, Stephen" sort="Hellens, Stephen" uniqKey="Hellens S" first="Stephen" last="Hellens">Stephen Hellens</name><name sortKey="Keavney, Bernard D" sort="Keavney, Bernard D" uniqKey="Keavney B" first="Bernard D." last="Keavney">Bernard D. Keavney</name><name sortKey="Mamasoula, Chrysovalanto" sort="Mamasoula, Chrysovalanto" uniqKey="Mamasoula C" first="Chrysovalanto" last="Mamasoula">Chrysovalanto Mamasoula</name><name sortKey="O Ullivan, John" sort="O Ullivan, John" uniqKey="O Ullivan J" first="John" last="O Ullivan">John O Ullivan</name><name sortKey="Rahman, Thahira J" sort="Rahman, Thahira J" uniqKey="Rahman T" first="Thahira J." last="Rahman">Thahira J. Rahman</name><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><name sortKey="Setchfield, Kerry" sort="Setchfield, Kerry" uniqKey="Setchfield K" first="Kerry" last="Setchfield">Kerry Setchfield</name><name sortKey="Thornborough, Chris" sort="Thornborough, Chris" uniqKey="Thornborough C" first="Chris" last="Thornborough">Chris Thornborough</name><name sortKey="Topf, Ana" sort="Topf, Ana" uniqKey="Topf A" first="Ana" last="Töpf">Ana Töpf</name><name sortKey="Wilson, Ian J" sort="Wilson, Ian J" uniqKey="Wilson I" first="Ian J." last="Wilson">Ian J. Wilson</name><name sortKey="Zwolinkski, Simon" sort="Zwolinkski, Simon" uniqKey="Zwolinkski S" first="Simon" last="Zwolinkski">Simon Zwolinkski</name></country><country name="France"><noRegion><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name></noRegion><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name></country><country name="Australie"><noRegion><name sortKey="Blue, Gillian M" sort="Blue, Gillian M" uniqKey="Blue G" first="Gillian M." last="Blue">Gillian M. Blue</name></noRegion><name sortKey="Winlaw, David S" sort="Winlaw, David S" uniqKey="Winlaw D" first="David S." last="Winlaw">David S. Winlaw</name></country><country name="Belgique"><noRegion><name sortKey="Breckpot, Jeroen" sort="Breckpot, Jeroen" uniqKey="Breckpot J" first="Jeroen" last="Breckpot">Jeroen Breckpot</name></noRegion><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><name sortKey="Gewillig, Marc" sort="Gewillig, Marc" uniqKey="Gewillig M" first="Marc" last="Gewillig">Marc Gewillig</name></country><country name="Suisse"><region name="Canton de Zurich"><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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