Article
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes.
Nature genetics - 1 Mar 2025
Tokolyi Alex, Persyn Elodie, Nath Artika P, Burnham Katie L, Marten Jonathan, Vanderstichele Thomas, Tardaguila Manuel, Stacey David, Farr Ben, Iyer Vivek, Jiang Xilin, Lambert Samuel A, Noell Guillaume, Quail Michael A, Rajan Diana, Ritchie Scott C, Sun Benjamin B, Thurston Scott A J, Xu Yu, Whelan Christopher D, Runz Heiko, Petrovski Slavé, Gaffney Daniel J, Roberts David J, Di Angelantonio Emanuele, Peters James E, Soranzo Nicole, Danesh John, Butterworth Adam S, Inouye Michael, Davenport Emma E, Paul Dirk S
Abstract excerpt
The biological mechanisms through which most nonprotein-coding genetic variants affect disease risk are unknown. To investigate gene-regulatory mechanisms, we mapped blood gene expression and splicing quantitative trait loci (QTLs) through bulk RNA sequencing in 4,732 participants and integrated protein, metabolite and lipid data from the same individuals. We identified cis-QTLs for the expression of 17,233 genes...
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