Regulatory elements in noncoding DNA in the chromosome 9p21 locus.

Study Hypothesis A novel locus on chromosome 9p21 has been identified in numerous genome-wide association studies as the most highly associated with coronary artery disease (CAD) and myocardial infarction. Understanding the mechanism by which the locus influences disease has been a challenge because the locus lies entirely within noncoding DNA—in a so-called “gene desert” at a long distance from the closest genes. The authors hypothesized that common DNA variants in the locus alter transcriptional regulatory elements that engage in long-range interactions with and modulate expression of genes outside of the locus.1