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.

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Pilbrow AP, Folkersen L, Pearson JF, Brown CM, McNoe L, Wang NM, Sweet WE, Tang WH, Black MA, Troughton RW, Richards AM, Franco-Cereceda A, Gabrielsen A, Eriksson P, Moravec CS, Cameron VA