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 |
| Tartalmi kivonat: | 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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| Terjedelem/Fizikai jellemzők: | 822-824 |
| ISSN: | 1061-4036 |