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

@inproceedings{Cordell2013GenomewideAS,
  title={Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16},
  author={Heather J. Cordell and Jamie R Bentham and Ana Topf and Diana Z{\'e}l{\'e}nika and Simon C Heath and Chrysovalanto Mamasoula and Catherine Cosgrove and Gillian M. Blue and Javier T. Granados-Riveron and Kerry Setchfield and Chris Thornborough and Jeroen Breckpot and Rachel Soemedi and Ruairidh I R Martin and Thahira J. Rahman and Darroch H. Hall and Kristoff Engelen and Antoon F. M. Moorman and Aelko H. Zwinderman and Phil Barnett and Tamara T. Koopmann and Michiel E. Adriaens and Andr{\'a}s Varr{\'o} and Alfred L. George and Christobal dos Remedios and Nanette Hahr Bishopric and Connie R. Bezzina and John J. O’Sullivan and Marc Gewillig and Frances A. Bu’Lock and David S Winlaw and Shoumo Bhattacharya and Koenraad Devriendt and J. David Brook and Barbara Mulder and Seema Mital and Alex Vincent Postma and G. M. Lathrop and Martin Farrall and Judith A. Goodship and Bernard D Keavney},
  booktitle={Nature Genetics},
  year={2013}
}
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… CONTINUE READING
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Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

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