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RNA Innovation Seminar: Karen Mohlke, UNC
Monday, January 9, 2023 @ 4:00 pm - 5:00 pm
“Genetic Variant Effects on Adipose Gene Expression and Their Role in Cardiometabolic Traits.”
Karen Mohlke, Ph.D.
Professor and Associate Chair for Research
Oliver Smithies Investigator
Department of Genetics, University of North Carolina
In-person: BSRB, ABC seminar rooms / hybrid link
Abstract: Noncoding genetic variants can affect common diseases and related quantitative traits. Variants may affect the expression levels of transcripts and alternatively-spliced isoforms, dependent on cell context. I will describe genetic variants associated with adipose tissue gene expression level in >2,200 people and their putative roles in cardiometabolic disease traits. Similarly, I will implicate variants associated with splice junction usage in disease risk. Finally, based on chromatin accessibility during adipocyte differentiation, I will show genetic regulatory effects that depend on cell context. Together, these studies help identify regulatory mechanisms for common diseases.
Keywords: Transcriptome, expression quantitative trait loci (eQTL), splice QTL (sQTL), genome-wide association study (GWAS), chromatin accessibility, epigenome, adipose tissue, adipocyte.