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

Myocardial Infarction Genetics Consortium

doi:10.1038/ng.327

Cited by 1,088Genetic Associations and EpidemiologyAcute Myocardial Infarction ResearchCardiovascular Health and Risk Factors

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

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Myocardial Infarction Genetics Consortium·2009·Nature Genetics

DOI 10.1038/ng.327PMC PMC2681011

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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 observations (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.

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Genomewide association analyses since 2007 have identified more than 50 independent loci associated with coronary artery disease risk.
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The TMMG meta-analysis data set consisted of 1242 cases and 492 controls from the Tufts/MGH GWAS Cohort Study, 1355 cases and 1076 controls from the MMAP Cohort Study, 1188 controls from the MIGen Consortium Study, and 1378 controls from the GAIN Schizophrenia Study.
“The TMMG meta-analysis data set consisted of: (i) 1242 cases and 492 controls from the Tufts/MGH GWAS Cohort Study (15), which were derived from ongoing AMD study protocols as described previously (8,15,24,35–37); (ii) 1355 cases and 1076 controls from the MMAP Cohort Study (16); (iii) 1188 controls from the (MIGen) Consortium Study (21) and (iv) 1378 controls from the GAIN Schizophrenia Study (22”
From Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration (2011) · cites this paper as [21]

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Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci
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Arterial thrombus formation in cardiovascular disease
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Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks
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Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project
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Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms
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Genome-Wide Association Study for Coronary Artery Calcification With Follow-Up in Myocardial Infarction
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Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders
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Assessing the Role of Circulating, Genetic, and Imaging Biomarkers in Cardiovascular Risk Prediction
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A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array
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The CXCL12/CXCR4 chemokine ligand/receptor axis in cardiovascular disease
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Genomics of Cardiovascular Disease
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Sort1, Encoded by the Cardiovascular Risk Locus 1p13.3, Is a Regulator of Hepatic Lipoprotein Export
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Platelets in atherosclerosis
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Sticky Signaling—Adhesion Class G Protein–Coupled Receptors Take the Stage
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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
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Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score
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Sortilin mediates vascular calcification via its recruitment into extracellular vesicles
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Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology
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Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration
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“The TMMG meta-analysis data set consisted of: (i) 1242 cases and 492 controls from the Tufts/MGH GWAS Cohort Study (15), which were derived from ongoing AMD study protocols as described previously (8,15,24,35–37); (ii) 1355 cases and 1076 controls from the MMAP Cohort Study (16); (iii) 1188 controls from the (MIGen) C…”
Method
Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population
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Precision and Personalized Medicine: How Genomic Approach Improves the Management of Cardiovascular and Neurodegenerative Disease
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Vascular calcification: from pathophysiology to biomarkers
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Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease
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Genetics of Common, Complex Coronary Artery Disease
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Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection
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Detection of High-Risk Atherosclerotic Plaque
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Genetic Analysis in UK Biobank Links Insulin Resistance and Transendothelial Migration Pathways to Coronary Artery Disease
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Genome-Wide Association of Lipid-Lowering Response to Statins in Combined Study Populations
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Genetic Variation and Neuroimaging Measures in Alzheimer Disease
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Genetics of coronary artery disease and myocardial infarction
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Genetic causes of high and low serum HDL-cholesterol
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Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque
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A Genetic Risk Score Is Associated With Incident Cardiovascular Disease and Coronary Artery Calcium: The Framingham Heart Study
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Self-citation
Biomarkers in cardiovascular disease: Statistical assessment and section on key novel heart failure biomarkers
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Estimating the causal tissues for complex traits and diseases
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Chemokines in the vascular inflammatory response of atherosclerosis
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Global defects in collagen secretion in a Mia3/TANGO1 knockout mouse
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A Comprehensive Map of the Human Urinary Proteome
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Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study
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Genetic copy number variants in myocardial infarction patients with hyperlipidemia
Shia, W.-C., Ku, T.-H., Tsao, Y.-M., Hsia, C., Chang, Y., Huang, C.-H., Chung, Y., Hsu, S., Liang, K., & Hsu, F.-R. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-s3-s23 · Cited by 45 · see citing works
Influence Of Rs1333040, A Newly Discovered 9p21.3 Genetic Variant, On Clinical Outcomes in Early-onset Myocardial Infarction
Lina, D., Notarangelo, M. F., Merlini, P. A., Berzuini, C., Mannucci, P. M., Peyvandi, F., Tubaro, M., Foco, L., Bernardinelli, L., & Ardissino, D. (2008) · Research Explorer (The University of Manchester) · doi:10.1161/circ.118.suppl_18.s_818 · Cited by 2 · see citing works
Association of Gene Variants With Incident Myocardial Infarction in the Cardiovascular Health Study
Shiffman, D., O’Meara, E. S., Bare, L. A., Rowland, C. M., Louie, J. Z., Arellano, A. R., Lumley, T., Rice, K. M., Iakoubova, O. A., Luke, M. M., et al. (2007) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.107.153981 · Cited by 167 · see citing works
Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms Conferring Risk of Myocardial Infarction
Ozaki, K., & Tanaka, T. (2006) · Methods in molecular medicine · doi:10.1007/978-1-59745-159-8_12 · Cited by 6 · see citing works
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Hiura, Y., Fukushima, Y., Yuno, M., Sawamura, H., Kokubo, Y., Okamura, T., Tomoike, H., Goto, Y., Nonogi, H., Takahashi, R., et al. (2008) · Circulation Journal · doi:10.1253/circj.72.1213 · Cited by 82 · see citing works

Authors: Myocardial Infarction Genetics Consortium
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2009-02-08
Volume: 41
Issue: 3
Pages: 334-341
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng.327
PMC: PMC2681011
OpenAlex: W2054153086
Cited by: 1,088
References: 47
Citations by year: 2026: 12 · 2025: 15 · 2024: 22 · 2023: 19 · 2022: 29 · 2021: 42 · 2020: 41 · 2019: 39 · 2018: 50 · 2017: 75 · 2016: 89 · 2015: 86 · 2014: 87 · 2013: 73 · 2012: 117
FWCI: 79.11
Type: journal article
Language: en
Update notices: erratum (2009-06-01)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Research Explorer (The University of Manchester) (publishedVersion)
PubMed Central (acceptedVersion)
University of Regensburg Publication Server (University of Regensburg) (acceptedVersion)
Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
Leicester Research Archive (University of Leicester) (submittedVersion)
Research Portal (Queen's University Belfast) (submittedVersion)
Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion)
Funders: Wellcome Trust (089061, 076113)
British Heart Foundation
National Institutes of Health (n01hd013107-007, 6u54rr020278-06)
Economic and Social Research Council (ES/G007438/1)
National Heart, Lung, and Blood Institute (R01HL056931)
National Institute of Diabetes and Digestive and Kidney Diseases (K24DK080140)
National Institute of Environmental Health Sciences (P30ES007033)
National Center for Research Resources (U54-RR020278)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (N01HD013107)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Acute Myocardial Infarction Research
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Health and Risk Factors
Keywords: early-onset myocardial infarction, single nucleotide polymorphisms, copy number variation, rare copy number variants, genetic susceptibility loci, PHACTR1, PCSK9, LDL receptor, CXCL12, 9p21, 19p13, WDR12
MeSH terms: Adult, Algorithms, Female, Gene Frequency, Humans, Male, Middle Aged, Mutation, Myocardial Infarction, Risk Factors, Case-Control Studies, Age of Onset, Gene Dosage, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study

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

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