Peter Scacheri
Assistant Professor
Department of Genetics
Case Western Reserve University
Multiple enhancer variants in common disease
DNA variants (SNPs) that predispose to common traits often localize within noncoding regulatory elements such as enhancers. Moreover, loci identified by genome-wide association studies often contain several SNPs in linkage disequilibrium, any of which may be causal. Thus, determining the effect of these variants on target transcript levels has been a major challenge. I will provide evidence in support of a “multiple enhancer variant” hypothesis for common traits, where several linked variants impact multiple enhancers and cooperatively contribute to altered expression of their gene targets. The multiple enhancer variant hypothesis offers a new paradigm by which non-coding variants can confer susceptibility to common traits.
