CoChat
Sign Up
Cited by 1,587Genetic Associations and EpidemiologyCardiovascular Health and Risk FactorsGenetic Mapping and Diversity in Plants and Animals

A Common Allele on Chromosome 9 Associated with Coronary Heart Disease

Open access
McPherson, Ruth, Pertsemlidis, Alexander, Kavaslar, Nihan, Stewart, Alexandre, Roberts, Robert, Cox, David R., Hinds, David A., Pennacchio, Len A. +5 more·2007·Science
DOI 10.1126/science.1142447PMC PMC2711874
Open this paper in CoChat — free account

Abstract

Coronary heart disease (CHD) is a major cause of death in Western countries. We used genome-wide association scanning to identify a 58-kilobase interval on chromosome 9p21 that was consistently associated with CHD in six independent samples (more than 23,000 participants) from four Caucasian populations. This interval, which is located near the CDKN2A and CDKN2B genes, contains no annotated genes and is not associated with established CHD risk factors such as plasma lipoproteins, hypertension, or diabetes. Homozygotes for the risk allele make up 20 to 25% of Caucasians and have a ∼30 to 40% increased risk of CHD.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1126/science.1142447

Cites

15 of 15 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • 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 [42]

  • 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 [42]

    The Abstract reports a chromosome 9 allele associated with CHD risk, but it does not address endometriosis or a genetic susceptibility shared by the two conditions. A search for “endometriosis” in our copy found no passage discussing it. (LLM, conf=0.76)

    Experimental — accuracy not yet measured

  • Genomewide 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 [9]

  • Atherosclerotic plaques from patients carrying a 9p21 locus variant including CDKN2B, a variant associated with human atherosclerosis, have lower calreticulin than plaques from non-carriers.

    “Interestingly, atherosclerotic plaques from patients carrying a genetic variation at the 9p21 locus (which includes the CDKN2B gene), which has been associated with atherosclerosis in humans204,205, have reduced levels of calreticulin compared with atherosclerotic plaques from non-carriers203, further supporting a role for defective efferocytosis in cardiovascular disease206.”

    From Inflammation and its resolution in atherosclerosis: mediators and therapeutic opportunities (2019) · cites this paper as [205]

  • 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 [105]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 21

  1. [1]1. C. J. Murray, A. D. Lopez, Lancet 349, 1436 (1997).
  2. [2]2. C. D. Mathers, D. Loncar, PLoS Med 3, e442 (2006).
  3. [3]3. A. J. Lusis, R. Mar, P. Pajukanta, Annu Rev Genomics Hum Genet 5, 189 (2004).
  4. [4]4. D. J. Rader, J. Cohen, H. H. Hobbs, J Clin Invest 111, 1795 (2003).
  5. [5]5. P. Pajukanta et al., Am J Hum Genet 67, 1481 (2000).
  6. [6]6. D. Shiffman et al., Am J Hum Genet 77, 596 (2005).
  7. [7]7. S. Francke et al., Hum Mol Genet 10, 2751 (2001).
  8. [8]8. E. R. Hauser et al., Am J Hum Genet 75, 436 (2004).
  9. [9]9. U. Broeckel et al., Nat Genet 30, 210 (2002).
  10. [10]10. S. B. Harrap et al., Arterioscler Thromb Vasc Biol 22, 874 (2002).
  11. [11]11. S. F. Saccone et al., Hum Mol Genet 16, 36 (2007).
  12. [12]12. T. A. S. Investigators, Am J Epidemiol 129, 687 (1989).
  13. [13]13. P. Schnohr, G. Jensen, H. Scharling, M. Appleyard, European Heart Journal 3, Suppl H., H1 (2001).
  14. [14]14. R. G. Victor et al., Am J Cardiol 93, 1473 (2004).
  15. [15]15. A. S. Agatston et al., J Am Coll Cardiol 15, 827 (1990).
  16. [16]16. T. Jain et al., J. Am Coll Cardiol 44, 1011 (2004).
  17. [17]17. E. Pasmant, Laurendeau,I., Heron,D., Vidaud,M.,Vidaud,D., Bieche,I., Cancer Res In Press (2007).
  18. [18]18. D. A. Hinds et al., Science 307, 1072 (2005).
  19. [19]19. J. Cohen et al., Proc Natl Acad Sci USA 103, 1810 (2006).
  20. [20]20. J. C. Cohen, E. Boerwinkle, T. H. Mosley, H. HH, N. Engl. J. Med. 354, 34 (2006).
  21. [22]22. National Cholesterol Education Program (NCEP) Expert Panel on Detection. Circulation 106, 3143 (2002).

Cited by

Sorted by citations

Related

Authors
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., Hinds, D. A., Pennacchio, L. A., Tybjaerg-Hansen, A., Folsom, A. R., Boerwinkle, E., Hobbs, H. H., & Cohen, J. C.
Affiliations
  • Lawrence Berkeley National Laboratory (US)
  • Division of Cardiology, University of Ottawa Heart Institute, Ottawa K1Y4W7, Canada.
  • University of Minnesota (US)
  • Howard Hughes Medical Institute (US)
Corresponding author
  • McPherson, Ruth
  • Pertsemlidis, Alexander
  • Cohen, Jonathan C.
ORCID
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
2007-06-08
Volume
316
Issue
5830
Pages
1488-1491
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
DOI
10.1126/science.1142447
PMC
PMC2711874
OpenAlex
W1499959019
Cited by
1,587
References
15
Citations by year
2026: 23 · 2025: 16 · 2024: 31 · 2023: 32 · 2022: 29 · 2021: 54 · 2020: 56 · 2019: 54 · 2018: 80 · 2017: 67 · 2016: 80 · 2015: 71 · 2014: 93 · 2013: 96 · 2012: 122
FWCI
98.03
Type
journal article
Language
en
Open access
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • University of North Texas Digital Library (University of North Texas) (submittedVersion)
  • OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
National Heart, Lung, and Blood Institute (HL-066681, R01HL082896, HL-082896, U01HL066681)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Health and Risk Factors
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords
coronary artery disease, chromosome 9p21, CDKN2A, CDKN2B, genetic susceptibility, risk alleles, genome-wide association study, cardiovascular risk, homozygosity
MeSH terms
Aged, Alleles, Chromosome Mapping, Chromosomes, Human, Pair 9, Coronary Artery Disease, Coronary Disease, Ethnicity, Female, Gene Frequency, Haplotypes, Humans, Male, Middle Aged, Risk Factors, Genetic Variation, Linkage Disequilibrium, Proportional Hazards Models, Case-Control Studies, Genes, p16, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, RNA, Untranslated, Regulatory Elements, Transcriptional

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.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review