A Common Allele on Chromosome 9 Associated with Coronary Heart Disease
Ruth McPherson(Lawrence Berkeley National Laboratory), Alexander Pertsemlidis(Lawrence Berkeley National Laboratory), Nihan Kavaslar(Lawrence Berkeley National Laboratory), Alexandre F.R. Stewart(Lawrence Berkeley National Laboratory), Robert Roberts(Lawrence Berkeley National Laboratory), David R. Cox(Lawrence Berkeley National Laboratory), David A. Hinds(Lawrence Berkeley National Laboratory), L Pennacchio(Lawrence Berkeley National Laboratory), Anne Tybjærg‐Hansen(Lawrence Berkeley National Laboratory), Aaron R. Folsom(University of Minnesota), Eric Boerwinkle(Lawrence Berkeley National Laboratory), Helen H. Hobbs(Howard Hughes Medical Institute), Jonathan C. Cohen(Lawrence Berkeley National Laboratory)
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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 approximately 30 to 40% increased risk of CHD.
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