Ontology highlight
ABSTRACT:
SUBMITTER: Brotman SM
PROVIDER: S-EPMC8764203 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Brotman Sarah M SM Raulerson Chelsea K CK Vadlamudi Swarooparani S Currin Kevin W KW Shen Qiujin Q Parsons Victoria A VA Iyengar Apoorva K AK Roman Tamara S TS Furey Terrence S TS Kuusisto Johanna J Collins Francis S FS Boehnke Michael M Laakso Markku M Pajukanta Päivi P Mohlke Karen L KL
American journal of human genetics 20220101 1
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) for 59,443 exons and 15,397 genes (FDR < 1%). We identified 595 genes with an sQTL ...[more]