A Common Allele on Chromosome 9 Associated with Coronary Heart Disease

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.

Sources:

A Common variant on chromosome 9p21 affects the risk of myocardial infarction. Anna Helgadottir et al. Published online 3 May 2007 [DOI: 10.1126/science.1142842] (in Science Express Reports).

A common allele on chromosome 9 associated with coronary heart disease. Ruth McPherson et al. Published online 3 May 2007 [DOI: 10.1126/science.1142447] (in Science Express Reports).