Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Myocardial Infarction Genetics Consortium, Brown, Matthew A. and Linda Bradbury (2009) Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics, 41 3: 334-341. doi:10.1038/ng.327


Author Myocardial Infarction Genetics Consortium
Brown, Matthew A.
Linda Bradbury
Title Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2009-02-08
Year available 2009
Sub-type Letter to editor, brief commentary or brief communication
DOI 10.1038/ng.327
Volume 41
Issue 3
Start page 334
End page 341
Total pages 8
Editor Axton, M.
Place of publication United States
Publisher Nature Publishing Group
Collection year 2010
Language eng
Subject C1
970111 Expanding Knowledge in the Medical and Health Sciences
920103 Cardiovascular System and Diseases
060405 Gene Expression (incl. Microarray and other genome-wide approaches)
Abstract We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations1, 2, 3, 4 (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (>1% allele frequency) and none met the pre-specified threshold for replication (P < 10-3). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk.
Keyword Genome-wide Association
Myocardial infarction
Variants
Copy Number
risk
Q-Index Code C1
Q-Index Status Confirmed Code
Additional Notes The Myocardial Infarction Genetics Consortium has multipl;e authors of which one is the Wellcome Trust Case Control Consortium. Please note that Matthew Brown and Linda Bradbury are members of the Wellcome Trust Case Control Consortium

Document type: Journal Article
Sub-type: Letter to editor, brief commentary or brief communication
Collections: 2010 Higher Education Research Data Collection
UQ Diamantina Institute Publications
 
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Created: Wed, 14 Apr 2010, 13:37:51 EST by Kylie Hengst on behalf of UQ Diamantina Institute