Article
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Academic Department of Medical Genetics, Cambridge University, Cambridge, UK; Department of Hepatology, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, UK.
Nature Genetics (impact factor:
35.53).
03/2011;
43(4):329-32.
DOI:10.1038/ng.789
Source: PubMed
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Citations (0)
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Article: Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot.
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ABSTRACT: We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot, using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P=1.4×10(-7)) and replicated convincingly (P=3.9×10(-5)) in 798 cases and 2931 controls (per allele OR=1.27 in replication cohort, P=7.7×10(-11) in combined populations). SNPs in the glypican 5 gene (GPC5) on chromosome 13q32 were also associated (P=1.7×10(-7)) and replicated convincingly (P=1.2×10(-5)) in 789 cases and 2927 controls (per allele OR=1.31 in replication cohort, P=3.03×10(-11) in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of Tetralogy of Fallot.Human Molecular Genetics 01/2013; · 7.64 Impact Factor
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Keywords
12 new susceptibility loci
2,514 population controls
5,163 UK population controls
additional UK cohort
DENND1B
genetic architecture
genetic risk factors
HLA locus
New candidate genes
primary biliary cirrhosis
recent genome-wide association studies
replicated
TNFRSF1A
UK PBC Consortium
Wellcome Trust Case Control Consortium 3
