Gene expression and genotype in normal heart

Genome-wide association studies have identified a small region at chromosome 9p21.3 strongly associated with coronary heart disease risk. The region contains no protein-coding genes and the mechanism underlying its association with heart disease is unknown. We investigated associations between rs1333049, a single nucleotide polymorphism representing the 9p21.3 locus, and levels of cardiac gene expression in myocardial tissue from donors with no documented history of heart disease. Individual myocardial gene expression profiles were generated with Affymetrix Human Gene 1.0 ST arrays (n=108). DNA genotyping was performed with Taqman assays. Associations between genotype and gene expression were analyzed assuming a recessive effect.