Origins and implications of intron retention quantitative trait loci in human tissues.

ABSTRACT: Intron retention is a type of alternative splicing in which introns remain unspliced in mature RNA transcripts. In order to explore the landscape and consequences of genetically regulated intron retention, we perform an intron retention quantitative trait locus (irQTL) analysis in 49 human tissues across 838 individuals. We identify 8,624 unique intron retention events associated with genetic polymorphisms. 1,369 irQTLs (16%) are also associated with genome-wide association study (GWAS) traits. 1,999 irQTLs (23%) colocalize with expression QTLs (eQTLs) to their respective gene. We demonstrate that irQTLs are sufficient to generate eQTLs when one of the alternatively spliced transcripts is preferentially targeted by the nonsense-mediated decay (NMD) pathway. Surprisingly, for intron retenti

SUBMITTER: Park E 

PROVIDER: S-EPMC12808957 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature