1. Potential relevance of SV‐eQTLs in adaptive or maladaptive pathways in heart failure
Potential relevance of SV‐eQTLs in adaptive or maladaptive pathways in heart failure A 37‐kb deletion in the glutathione S‐transferase theta (GSTT) locus affects multiple genes in linkage disequilibrium. Horizontal lines represent the median normalized expression, the box limits represent the 1st and 3rd quartile and the error bars represent the 1.5× interquartile range.Genes are directly deleted by the SV, as is for GSTT2B, or partly deleted, as is for DDTL.The validation of the linked deletion by methylation profiling reveals significantly reduced probe intensities for homozygous and heterozygous SV carrier compared to non‐carriers.For GSTT1 and GSTT2, a significant dysregulation can be detected in a heart failure (TAC) mouse model at different time points post‐TAC surgery, indicating that the genes may be functionally relevant in the setting of heart failure. Error bars represent  ±SD; at baseline (TAC OP) values represent the mean of four biological replicates and three hours after TAC (TAC 3h) and two days after TAC (TAC 2d) values represent the mean of three biological replicates. P‐values represent significance levels from Student's t‐test.
Jan Haas et al. EMBO Mol Med. 2017;emmm
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