Crossref journal-article
American Association for the Advancement of Science (AAAS)
Science (221)
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.

Bibliography

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. (2007). A Common Allele on Chromosome 9 Associated with Coronary Heart Disease. Science, 316(5830), 1488–1491.

Authors 13
  1. Ruth McPherson (first)
  2. Alexander Pertsemlidis (additional)
  3. Nihan Kavaslar (additional)
  4. Alexandre Stewart (additional)
  5. Robert Roberts (additional)
  6. David R. Cox (additional)
  7. David A. Hinds (additional)
  8. Len A. Pennacchio (additional)
  9. Anne Tybjaerg-Hansen (additional)
  10. Aaron R. Folsom (additional)
  11. Eric Boerwinkle (additional)
  12. Helen H. Hobbs (additional)
  13. Jonathan C. Cohen (additional)
References 13 Referenced 1,437
  1. 10.1016/S0140-6736(96)07495-8
  2. 10.1371/journal.pmed.0030442
  3. 10.1093/hmg/ddl438
  4. 10.1093/oxfordjournals.aje.a115184
  5. P. Schnohr, G. Jensen, H. Scharling, M. Appleyard, Eur. Heart J.3 (suppl. H), H1 (2001). (10.1016/S1520-765X(01)90110-5) / Eur. Heart J. (2001)
  6. 10.1016/j.amjcard.2004.02.058
  7. 10.1016/0735-1097(90)90282-T
  8. 10.1158/0008-5472.CAN-06-3016
  9. 10.1073/pnas.0508483103
  10. 10.1056/NEJMoa052985
  11. 10.1038/ng1984
  12. 10.1161/circ.106.25.3143
  13. We thank T. Hyatt H. Doelle T. Naing L. Nie K. Moller Rasmussen M. Refstrup W. S. Schackwitz J. Martin and A. Ustaszewska for excellent technical assistance and J. Schageman C. Lee K. Lawson and K. Williams for statistical analyses. We are indebted to the staff and participants of the OHS the DHS the ARIC study and the CCHS for their important contributions. Supported by grants from Foundation Le Ducq the Donald W. Reynolds Foundation NIH (HL-082896) the National Heart Lung and Blood Institute Program for Genomic Applications (no. HL-066681) the U.S. Department of Energy (contract no. DE-AC02-05CH11231) the Canadian Institutes of Health Research (no. 44360) the Canadian Foundation for Innovation the Heart and Stroke Foundation of Ontario (no. NA-5413) the Danish Medical Research Council the Danish Heart Foundation and the Research Fund at Rigshospitalet Copenhagen University Hospital. D.R.C. and D.A.H. have equity interest in Perlegen Sciences.
Dates
Type When
Created 18 years, 3 months ago (May 3, 2007, 9:30 p.m.)
Deposited 1 year, 7 months ago (Jan. 10, 2024, 3:36 a.m.)
Indexed 3 days, 14 hours ago (Aug. 28, 2025, 8:54 a.m.)
Issued 18 years, 2 months ago (June 8, 2007)
Published 18 years, 2 months ago (June 8, 2007)
Published Print 18 years, 2 months ago (June 8, 2007)
Funders 0

None

@article{McPherson_2007, title={A Common Allele on Chromosome 9 Associated with Coronary Heart Disease}, volume={316}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.1142447}, DOI={10.1126/science.1142447}, number={5830}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={McPherson, Ruth and Pertsemlidis, Alexander and Kavaslar, Nihan and Stewart, Alexandre and Roberts, Robert and Cox, David R. and Hinds, David A. and Pennacchio, Len A. and Tybjaerg-Hansen, Anne and Folsom, Aaron R. and Boerwinkle, Eric and Hobbs, Helen H. and Cohen, Jonathan C.}, year={2007}, month=jun, pages={1488–1491} }