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Published Online May 3, 2007
Science DOI: 10.1126/science.1142447

Reports

Submitted on March 12, 2007
Accepted on April 24, 2007

A Common Allele on Chromosome 9 Associated with Coronary Heart Disease

Ruth McPherson 1*, Alexander Pertsemlidis 2, Nihan Kavaslar 1, Alexandre Stewart 1, Robert Roberts 1, David R. Cox 3, David A. Hinds 3, Len A. Pennacchio 4, Anne Tybjaerg-Hansen 5, Aaron R. Folsom 6, Eric Boerwinkle 7, Helen H. Hobbs 8, Jonathan C. Cohen 9*

1 Division of Cardiology, University of Ottawa Heart Institute, Ottawa K1Y4W7, Canada.
2 Donald W. Reynolds Cardiovascular Clinical Research Center and the Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
3 Perlegen Sciences, Mountain View, CA 94043; USA.
4 Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA & U.S. Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA.
5 Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen DK-2100, Denmark.
6 Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN 55454, USA.
7 Human Genetics Center and Institute for Molecular Medicine, University of Texas Health Science Center, Houston, TX 77030, USA.
8 Donald W. Reynolds Cardiovascular Clinical Research Center and the Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Howard Hughes Medical Institute at the University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
9 Donald W. Reynolds Cardiovascular Clinical Research Center and the Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Center for Human Nutrition

* To whom correspondence should be addressed.
Ruth McPherson , E-mail: rmcpherson{at}ottawaheart.ca
Jonathan C. Cohen , E-mail: jonathan.cohen{at}utsouthwestern.edu

Coronary heart disease (CHD) is a major cause of death in Western countries. Here 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 (n> 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 comprise 20-25% of Caucasians and have a ~30-40% increased risk of CHD.


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