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 affected individuals from each of the 3 major clinical CHD categories (with septal, obstructive and cyanotic defects). When all CHD...
Elmentve itt :
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| Dokumentumtípus: | Cikk |
| Megjelent: |
2013
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| Sorozat: | NATURE GENETICS
45 No. 7 |
| doi: | 10.1038/ng.2637 |
| mtmt: | 2328683 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/16119 |
| LEADER | 02176nab a2200373 i 4500 | ||
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| 005 | 20190716093402.0 | ||
| 008 | 190716s2013 hu o 0|| zxx d | ||
| 022 | |a 1061-4036 | ||
| 024 | 7 | |a 10.1038/ng.2637 |2 doi | |
| 024 | 7 | |a 2328683 |2 mtmt | |
| 040 | |a SZTE Publicatio Repozitórium |b hun | ||
| 041 | |a zxx | ||
| 100 | 1 | |a Cordell Heather J. | |
| 245 | 1 | 0 | |a Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 |h [elektronikus dokumentum] / |c Cordell Heather J. |
| 260 | |c 2013 | ||
| 300 | |a 822-824 | ||
| 490 | 0 | |a NATURE GENETICS |v 45 No. 7 | |
| 520 | 3 | |a 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 affected individuals from each of the 3 major clinical CHD categories (with septal, obstructive and cyanotic defects). When all CHD phenotypes were considered together, no region 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 association was replicated in a further 417 ASD cases and 2,520 controls (replication P = 5.0 × 10-5; odds ratio (OR) in replication cohort = 1.40, 95% confidence interval (CI) = 1.19-1.65; combined P = 2.6 × 10-10). Genotype accounted for ∼9% of the population-attributable risk of ASD. | |
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| 700 | 0 | 1 | |a Zelenika Diana |e aut |
| 700 | 0 | 1 | |a Heath Simon |e aut |
| 700 | 0 | 1 | |a Mamasoula Chrysovalanto |e aut |
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| 856 | 4 | 0 | |u http://publicatio.bibl.u-szeged.hu/16119/1/Cordell2013.pdf |z Dokumentum-elérés |