DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Congenital heart disease. The EFO term congenital heart disease was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: congenital heart disease

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

HJ Cordell, J Bentham, A Topf, D Zelenika, S Heath, C Mamasoula, C Cosgrove, G Blue, J Granados-Riveron, K Setchfield, C Thornborough, J Breckpot, R Soemedi, R Martin, TJ Rahman, D Hall, K van Engelen, AF Moorman, AH Zwinderman, P Barnett, TT Koopmann, ME Adriaens, A Varro, AL George, C dos Remedios, NH Bishopric, CR Bezzina, J O'Sullivan, M Gewillig, FA Bu'Lock, D Winlaw, S Bhattacharya, K Devriendt, JD Brook, BJ Mulder, S Mital, AV Postma, GM Lathrop, M Farrall, JA Goodship, BD Keavney

TITLE:

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

JOURNAL:

Nature genetics Jul 2013, Vol 45, pp. 822-4

ABSTRACT:

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. PUBMED: 23708191
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