A common allele on chromosome 9 associated with coronary heart disease

Ruth McPherson, Alexander Pertsemlidis, Nihan Kavaslar, Alexandre Stewart, Robert Roberts, David R. Cox, David A. Hinds, Len A. Pennacchio, Anne Tybjaerg-Hansen, Aaron R. Folsom, Eric Boerwinkle, Helen H. Hobbs, Jonathan C. Cohen

Research output: Contribution to journalArticle

1318 Scopus citations

Abstract

Coronary heart disease (CHD) is a major cause of death in Western countries. We used genomewide 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.

Original languageEnglish (US)
Pages (from-to)1488-1491
Number of pages4
JournalScience
Volume316
Issue number5830
DOIs
StatePublished - Jun 8 2007
Externally publishedYes

ASJC Scopus subject areas

  • General

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    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. https://doi.org/10.1126/science.1142447