Article
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits.
American journal of human genetics - 6 Jan 2022
Brotman Sarah M, Raulerson Chelsea K, Vadlamudi Swarooparani, Currin Kevin W, Shen Qiujin, Parsons Victoria A, Iyengar Apoorva K, Roman Tamara S, Furey Terrence S, Kuusisto Johanna, Collins Francis S, Boehnke Michael, Laakso Markku, Pajukanta Päivi, Mohlke Karen L
Abstract excerpt
Alternate splicing events can create isoforms that alter gene function, and genetic variants associated with alternate gene isoforms may reveal molecular mechanisms of disease. We used subcutaneous adipose tissue of 426 Finnish men from the METSIM study and identified splice junction quantitative trait loci (sQTLs) for 6,077 splice junctions (FDR < 1%). In the same individuals, we detected expression QTLs (eQTLs)...
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