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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.

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...

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Publication status:
Published

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Publisher copy:
10.1038/ng.2637

Authors


Cordell, HJ More by this author
Bentham, J More by this author
Zelenika, D More by this author
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Journal:
Nature genetics
Volume:
45
Issue:
7
Pages:
822-824
Publication date:
2013-07-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:8fcf475e-113a-4673-ab8e-91ca33f755cc
Source identifiers:
401931
Local pid:
pubs:401931

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