AustralieFrV1, Main, Exploration, bibRecord, 005D59

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Identifieur interne : 005D59 ( Main/Exploration ); précédent : 005D58; suivant : 005D60

Contribution 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' Sullivan [Royaume-Uni] ; David S. Winlaw [Australie] ; Frances Bu'Lock [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.

RBID : Pascal:12-0371238

Descripteurs français

Pascal (Inist)
- Cardiopathie congénitale, Nombre copie, Variant, Facteur risque, Risque, Sporadique, Génétique.
Wicri :
- topic : Génétique.

English descriptors

KwdEn :
- Congenital cardiopathy, Copy number, Genetics, Risk, Risk factor, Sporadic, Variant.

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 x 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., HAND2 and GJA5), 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511986

Affiliations:

Le document en format XML

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<country>France</country>
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<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
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<author><name sortKey="Goodship, Judith A" sort="Goodship, Judith A" uniqKey="Goodship J" first="Judith A." last="Goodship">Judith A. Goodship</name>
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</author>
<author><name sortKey="Keavney, Bernard D" sort="Keavney, Bernard D" uniqKey="Keavney B" first="Bernard D." last="Keavney">Bernard D. Keavney</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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>
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<country>Royaume-Uni</country>
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</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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
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<country>Royaume-Uni</country>
<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"><inist:fA14 i1="02"><s1>Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford</s1>
<s2>Oxford, OX3 7BN</s2>
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<country>Royaume-Uni</country>
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</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author><name sortKey="Darlay, Rebecca" sort="Darlay, Rebecca" uniqKey="Darlay R" first="Rebecca" last="Darlay">Rebecca Darlay</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
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<country>Royaume-Uni</country>
<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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
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<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Commissariat à l'Energie Atomique, Centre National de Génotypage</s1>
<s2>91057 Evry</s2>
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<country>France</country>
<wicri:noRegion>91057 Evry</wicri:noRegion>
<wicri:noRegion>Centre National de Génotypage</wicri:noRegion>
<wicri:noRegion>91057 Evry</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Ceph Fondation Jean Dausset</s1>
<s2>75010 Paris</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>75010 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
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</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"><inist:fA14 i1="02"><s1>Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford</s1>
<s2>Oxford, OX3 7BN</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Oxford</settlement>
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</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author><name sortKey="Setchfield, Kerry" sort="Setchfield, Kerry" uniqKey="Setchfield K" first="Kerry" last="Setchfield">Kerry Setchfield</name>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>School of Biology, University of Nottingham</s1>
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<s3>GBR</s3>
<sZ>8 aut.</sZ>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Nottingham</settlement>
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</placeName>
<orgName type="university">Université de Nottingham</orgName>
</affiliation>
</author>
<author><name sortKey="Thornborough, Chris" sort="Thornborough, Chris" uniqKey="Thornborough C" first="Chris" last="Thornborough">Chris Thornborough</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>East Midlands Congenital Heart Centre, Glenfield Hospital</s1>
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<country>Royaume-Uni</country>
<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>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Nottingham</settlement>
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</placeName>
<orgName type="university">Université de Nottingham</orgName>
</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"><inist:fA14 i1="07"><s1>Heart Centre for Children, The Children's Hospital at Westmead</s1>
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</inist:fA14>
<country>Australie</country>
<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>
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</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>Leuven 3000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hellens, Stephen" sort="Hellens, Stephen" uniqKey="Hellens S" first="Stephen" last="Hellens">Stephen Hellens</name>
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<sZ>13 aut.</sZ>
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</inist:fA14>
<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Zwolinkski, Simon" sort="Zwolinkski, Simon" uniqKey="Zwolinkski S" first="Simon" last="Zwolinkski">Simon Zwolinkski</name>
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<s3>GBR</s3>
<sZ>13 aut.</sZ>
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</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
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<s3>GBR</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
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</inist:fA14>
<country>Royaume-Uni</country>
<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>
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<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name>
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</affiliation>
</author>
<author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name>
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</inist:fA14>
<country>Suisse</country>
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</placeName>
<orgName type="university">Université de Zurich</orgName>
</affiliation>
</author>
<author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name>
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<sZ>12 aut.</sZ>
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</inist:fA14>
<country>Belgique</country>
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</affiliation>
</author>
<author><name sortKey="Gewillig, Marc" sort="Gewillig, Marc" uniqKey="Gewillig M" first="Marc" last="Gewillig">Marc Gewillig</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Paediatric Cardiology, University of Leuven</s1>
<s2>Leuven 3000</s2>
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<sZ>21 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
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<author><name sortKey="Cordell, Heather J" sort="Cordell, Heather J" uniqKey="Cordell H" first="Heather J." last="Cordell">Heather J. Cordell</name>
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<author><name sortKey="Keavney, Bernard D" sort="Keavney, Bernard D" uniqKey="Keavney B" first="Bernard D." last="Keavney">Bernard D. Keavney</name>
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<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2012">2012</date>
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<seriesStmt><title level="j" type="main">American journal of human genetics</title>
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<idno type="ISSN">0002-9297</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Congenital cardiopathy</term>
<term>Copy number</term>
<term>Genetics</term>
<term>Risk</term>
<term>Risk factor</term>
<term>Sporadic</term>
<term>Variant</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Cardiopathie congénitale</term>
<term>Nombre copie</term>
<term>Variant</term>
<term>Facteur risque</term>
<term>Risque</term>
<term>Sporadique</term>
<term>Génétique</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 x 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., HAND2 and GJA5), 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.</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>
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<settlement><li>Evry</li>
<li>Nottingham</li>
<li>Oxford</li>
<li>Paris</li>
<li>Zurich</li>
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<orgName><li>Université d'Oxford</li>
<li>Université de Nottingham</li>
<li>Université de Zurich</li>
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<tree><country name="Royaume-Uni"><noRegion><name sortKey="Soemedi, Rachel" sort="Soemedi, Rachel" uniqKey="Soemedi R" first="Rachel" last="Soemedi">Rachel Soemedi</name>
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<name sortKey="Cosgrove, Catherine" sort="Cosgrove, Catherine" uniqKey="Cosgrove C" first="Catherine" last="Cosgrove">Catherine Cosgrove</name>
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<name sortKey="David Brook, J" sort="David Brook, J" uniqKey="David Brook J" first="J." last="David Brook">J. David Brook</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>
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<name sortKey="O Sullivan, John" sort="O Sullivan, John" uniqKey="O Sullivan J" first="John" last="O' Sullivan">John O' Sullivan</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>
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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

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