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Chunk #21 — Utilizing expression quantitative trait loci studies to evaluate the impact of enhancer variants

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Enhancer variants: evaluating functions in common disease.
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a given locus. Last, because eQTL studies are typically performed on healthy individuals, the impact of the SNP on the quantitative trait may differ in response to disease-specific stimuli. This was observed in a survey of enhancer SNPs associated with prostate cancer. Here, the effect of a SNP on enhancer function was only observed in the presence of the androgen dihydrotestosterone [6]. Additionally, a study by Harismendy and co-workers demonstrated that the chromatin interaction between an enhancer locus associated with coronary artery disease and the gene target IFNA21 was significantly remodeled by treatment with interferon-γ [31].