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Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls, and included patients from each of the three major clinical CHD categories (septal, obstructive and cyanotic defects). When all CHD phenotypes w...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3793630/ https://www.ncbi.nlm.nih.gov/pubmed/23708191 http://dx.doi.org/10.1038/ng.2637 |
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| author | Cordell, Heather J. Bentham, Jamie Topf, Ana Zelenika, Diana Heath, Simon Mamasoula, Chrysovalanto Cosgrove, Catherine Blue, Gillian Granados-Riveron, Javier Setchfield, Kerry Thornborough, Chris Breckpot, Jeroen Soemedi, Rachel Martin, Ruairidh Rahman, Thahira J. Hall, Darroch van Engelen, Klaartje Moorman, Antoon F.M. Zwinderman, Aelko H Barnett, Phil Koopmann, Tamara T. Adriaens, Michiel E. Varro, Andras George, Alfred L. dos Remedios, Christobal Bishopric, Nanette H. Bezzina, Connie R. O’Sullivan, John Gewillig, Marc Bu’Lock, Frances A. Winlaw, David Bhattacharya, Shoumo Devriendt, Koen Brook, J. David Mulder, Barbara J.M. Mital, Seema Postma, Alex V. Lathrop, G. Mark Farrall, Martin Goodship, Judith A. Keavney, Bernard D. |
| author_facet | Cordell, Heather J. Bentham, Jamie Topf, Ana Zelenika, Diana Heath, Simon Mamasoula, Chrysovalanto Cosgrove, Catherine Blue, Gillian Granados-Riveron, Javier Setchfield, Kerry Thornborough, Chris Breckpot, Jeroen Soemedi, Rachel Martin, Ruairidh Rahman, Thahira J. Hall, Darroch van Engelen, Klaartje Moorman, Antoon F.M. Zwinderman, Aelko H Barnett, Phil Koopmann, Tamara T. Adriaens, Michiel E. Varro, Andras George, Alfred L. dos Remedios, Christobal Bishopric, Nanette H. Bezzina, Connie R. O’Sullivan, John Gewillig, Marc Bu’Lock, Frances A. Winlaw, David Bhattacharya, Shoumo Devriendt, Koen Brook, J. David Mulder, Barbara J.M. Mital, Seema Postma, Alex V. Lathrop, G. Mark Farrall, Martin Goodship, Judith A. Keavney, Bernard D. |
| author_sort | Cordell, Heather J. |
| collection | PubMed |
| description | We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls, and included patients from each of the three major clinical CHD categories (septal, obstructive and cyanotic defects). When all CHD phenotypes were considered together, no regions achieved genome-wide significant association. However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P=9.5×10(−7)) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N=340 cases), and this was replicated in a further 417 ASD cases and 2520 controls (replication P=5.0×10(−5); OR in replication cohort 1.40 [95% CI 1.19-1.65]; combined P=2.6×10(−10)). Genotype accounted for ~9% of the population attributable risk of ASD. |
| format | Online Article Text |
| id | pubmed-3793630 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2013 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-37936302014-01-01 Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 Cordell, Heather J. Bentham, Jamie Topf, Ana Zelenika, Diana Heath, Simon Mamasoula, Chrysovalanto Cosgrove, Catherine Blue, Gillian Granados-Riveron, Javier Setchfield, Kerry Thornborough, Chris Breckpot, Jeroen Soemedi, Rachel Martin, Ruairidh Rahman, Thahira J. Hall, Darroch van Engelen, Klaartje Moorman, Antoon F.M. Zwinderman, Aelko H Barnett, Phil Koopmann, Tamara T. Adriaens, Michiel E. Varro, Andras George, Alfred L. dos Remedios, Christobal Bishopric, Nanette H. Bezzina, Connie R. O’Sullivan, John Gewillig, Marc Bu’Lock, Frances A. Winlaw, David Bhattacharya, Shoumo Devriendt, Koen Brook, J. David Mulder, Barbara J.M. Mital, Seema Postma, Alex V. Lathrop, G. Mark Farrall, Martin Goodship, Judith A. Keavney, Bernard D. Nat Genet Article We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls, and included patients from each of the three major clinical CHD categories (septal, obstructive and cyanotic defects). When all CHD phenotypes were considered together, no regions achieved genome-wide significant association. However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P=9.5×10(−7)) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N=340 cases), and this was replicated in a further 417 ASD cases and 2520 controls (replication P=5.0×10(−5); OR in replication cohort 1.40 [95% CI 1.19-1.65]; combined P=2.6×10(−10)). Genotype accounted for ~9% of the population attributable risk of ASD. 2013-05-26 2013-07 /pmc/articles/PMC3793630/ /pubmed/23708191 http://dx.doi.org/10.1038/ng.2637 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Cordell, Heather J. Bentham, Jamie Topf, Ana Zelenika, Diana Heath, Simon Mamasoula, Chrysovalanto Cosgrove, Catherine Blue, Gillian Granados-Riveron, Javier Setchfield, Kerry Thornborough, Chris Breckpot, Jeroen Soemedi, Rachel Martin, Ruairidh Rahman, Thahira J. Hall, Darroch van Engelen, Klaartje Moorman, Antoon F.M. Zwinderman, Aelko H Barnett, Phil Koopmann, Tamara T. Adriaens, Michiel E. Varro, Andras George, Alfred L. dos Remedios, Christobal Bishopric, Nanette H. Bezzina, Connie R. O’Sullivan, John Gewillig, Marc Bu’Lock, Frances A. Winlaw, David Bhattacharya, Shoumo Devriendt, Koen Brook, J. David Mulder, Barbara J.M. Mital, Seema Postma, Alex V. Lathrop, G. Mark Farrall, Martin Goodship, Judith A. Keavney, Bernard D. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 |
| title | Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 |
| title_full | Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 |
| title_fullStr | Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 |
| title_full_unstemmed | Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 |
| title_short | Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 |
| title_sort | genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3793630/ https://www.ncbi.nlm.nih.gov/pubmed/23708191 http://dx.doi.org/10.1038/ng.2637 |
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