Meta-analysis of genetic regulation of RNA editing in the human brain identifies new genes underlying neurological disease.

ABSTRACT: Adenosine-to-inosine (A-to-I) RNA editing is among the most abundant post-transcriptional modifications, whose role in homeostasis and disease of the central nervous system (CNS) has been extensively reported. Regulation of A-to-I editing by cis-acting genetic variants (edQTLs) is understudied, especially in the brain. As a part of the BigBrain Project (n=4,471 individuals), which represents a >10-fold increase in sample size from previous edQTL studies, we harmonized A-to-I sites across datasets to perform a meta-analysis that identified 38,731 edQTLs in 3,554 genes. Integrating other QTL summary statistics from BigBrain, we show edQTLs in 3' untranslated regions (3'UTR) are more likely to share a genetic effect with gene expression or splicing. Using colocalization analysis, we id

SUBMITTER: Dredge WH 

PROVIDER: S-EPMC12622134 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature