Genomewide Association Analysis of Coronary Artery Disease
Open accessAbstract
BACKGROUND: Modern genotyping platforms permit a systematic search for inherited components of complex diseases. We performed a joint analysis of two genomewide association studies of coronary artery disease. METHODS: We first identified chromosomal loci that were strongly associated with coronary artery disease in the Wellcome Trust Case Control Consortium (WTCCC) study (which involved 1926 case subjects with coronary artery disease and 2938 controls) and looked for replication in the German MI [Myocardial Infarction] Family Study (which involved 875 case subjects with myocardial infarction and 1644 controls). Data on other single-nucleotide polymorphisms (SNPs) that were significantly associated with coronary artery disease in either study (P<0.001) were then combined to identify additional loci with a high probability of true association. Genotyping in both studies was performed with the use of the GeneChip Human Mapping 500K Array Set (Affymetrix). RESULTS: Of thousands of chromosomal loci studied, the same locus had the strongest association with coronary artery disease in both the WTCCC and the German studies: chromosome 9p21.3 (SNP, rs1333049) (P=1.80x10(-14) and P=3.40x10(-6), respectively). Overall, the WTCCC study revealed nine loci that were strongly associated with coronary artery disease (P<1.2x10(-5) and less than a 50% chance of being falsely positive). In addition to chromosome 9p21.3, two of these loci were successfully replicated (adjusted P<0.05) in the German study: chromosome 6q25.1 (rs6922269) and chromosome 2q36.3 (rs2943634). The combined analysis of the two studies identified four additional loci significantly associated with coronary artery disease (P<1.3x10(-6)) and a high probability (>80%) of a true association: chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and 15q22.33 (rs17228212). CONCLUSIONS: We identified several genetic loci that, individually and in aggregate, substantially affect the risk of development of coronary artery disease.
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The CDKN2BAS1/ANRIL region on chromosome 9p21 has also been robustly associated with coronary heart disease outcomes.
“and has also been robustly associated with CHD outcomes.(40-42)”
From Endometriosis and Risk of Coronary Heart Disease (2016) · cites this paper as [40]
Endometriosis and coronary heart disease may share common genetic susceptibilities.
“Additionally, endometriosis and CHD may share common genetic susceptibilities.”
From Endometriosis and Risk of Coronary Heart Disease (2016) · cites this paper as [40]
The Discussion identifies genetic loci associated with coronary artery disease and raises the possibility of a shared mechanism with type 2 diabetes, not endometriosis. A search for “endometriosis” in our full-text copy found no passage addressing whether it shares genetic susceptibility with coronary heart disease; no page numbers were available. (LLM, conf=0.74)
Experimental — accuracy not yet measuredGenomewide association analyses since 2007 have identified more than 50 independent loci associated with coronary artery disease risk.
“Since 2007, genomewide association analyses have identified more than 50 independent loci associated with the risk of coronary artery disease.7–15”
From Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease (2016) · cites this paper as [7]
Many associations implicate non-protein-coding regions; examples include 8q24 associated with prostate, breast, and colon cancer, 300 kb from the nearest gene, and 9q21 associated with myocardial infarction and T2D, 150 kb from CDKN2A/CDKN2B.
“Examples include the region at 8q24 associated with prostate, breast, and colon cancer, 300 kb from the nearest gene (103, 104), and the region at 9q21 associated with myocardial infarction and T2D, 150 kb from the nearest genes encoding CDKN2A and CDKN2B (99–101, 105–107).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [106]
Newly described variants on chromosome 1 near SORT1 are associated both with levels of LDL cholesterol and with risk of myocardial infarction.
“For example, newly described variants on chromosome 1 (near SORTI) are associated both with levels of LDL cholesterol (84, 85) and with risk of myocardial infarction (106);”
From Genetic Mapping in Human Disease (2008) · cites this paper as [106]
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- Authors
- Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B., Dixon, R. J., Meitinger, T., Braund, P., Wichmann, H.-E., Barrett, J. H., König, I. R., Stevens, S. E., Szymczak, S., Tregouet, D.-A., Iles, M. M., Pahlke, F., Pollard, H., Lieb, W., Cambien, F., Fischer, M., Ouwehand, W., Blankenberg, S., Balmforth, A. J., Baessler, A., Ball, S. G., Strom, T. M., Brænne, I., Gieger, C., Deloukas, P., Tobin, M. D., Ziegler, A., Thompson, J. R., & Schunkert, H.
- Affiliations
- University of Leicester (GB)
- University of Lübeck (DE)
- University of Leeds (GB)
- University of Regensburg (DE)
- Helmholtz Munich (DE)
- National Health Service (GB)
- Johannes Gutenberg University Mainz (DE)
- Wellcome Sanger Institute (GB)
- ORCID
- Samani, Nilesh J.
- Erdmann, Jeanette
- Hall, Alistair S.
- Hengstenberg, Christian
- Mangino, Massimo
- Meitinger, Thomas
- Braund, Peter
- Wichmann, H.-Erich
- Barrett, Jennifer H.
- König, Inke R.
- Szymczak, Silke
- Iles, Mark M.
- Pahlke, Friedrich
- Lieb, Wolfgang
- Fischer, Marcus
- Ouwehand, Willem
- Blankenberg, Stefan
- Baessler, Andrea
- Ball, Stephen G.
- Brænne, Ingrid
- Gieger, Christian
- Deloukas, Panos
- Tobin, Martin D.
- Ziegler, Andreas
- Schunkert, Heribert
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2007-08-02
- Volume
- 357
- Issue
- 5
- Pages
- 443-453
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC2719290
- OpenAlex
- W2120451046
- Cited by
- 2,044
- References
- 33
- Citations by year
- 2026: 22 · 2025: 33 · 2024: 47 · 2023: 54 · 2022: 61 · 2021: 75 · 2020: 60 · 2019: 81 · 2018: 84 · 2017: 90 · 2016: 101 · 2015: 111 · 2014: 115 · 2013: 117 · 2012: 168
- FWCI
- 112.15
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Figshare (submittedVersion, cc-by)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- Funders
- Wellcome Trust (077011, 076113)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Keywords
- myocardial infarction, genetic susceptibility, single nucleotide polymorphisms, chromosome 9p21.3, rs1333049, genetic loci
- MeSH terms
- Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 9, Coronary Artery Disease, Female, Genetic Markers, Genotype, Humans, Male, Middle Aged, Myocardial Infarction, Risk, Genome, Human, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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