Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart: gene expression

In recent years genome-wide association studies (GWAS) have uncovered numerous chromosomal loci associated with various electrocardiographic traits and cardiac arrhythmia predisposition. A considerable fraction of these loci lie within inter-genic regions. Trait-associated SNPs located in putative regulatory regions likely exert their effect by modulating gene expression. Hence, the key to unraveling the molecular mechanisms underlying cardiac traits is to interrogate variants for association with differential transcript abundance by expression quantitative trait locus (eQTL) analysis. In this study we conducted an eQTL analysis of human heart. To this end, left ventricular mycardium samples from non-diseased human donor hearts were hybridized to Illumina HumanOmniExpress BeadChips for genotyping (n = 129) and Illumina Human HT12 Version 4 BeadChips (n = 129) for transcription profiling.

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Koopmann TT, Adriaens ME, Moerland PD, Marsman RF, Westerveld ML, Lal S, Zhang T, Simmons CQ, Baczko I, dos Remedios C, Bishopric NH, Varro A, George AL Jr, Lodder EM, Bezzina CR