EQTL colocalization analysis highlights novel susceptibility genes in Autism Spectrum Disorders (ASD).

ABSTRACT: Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders (NDDs) characterized by difficulties in social interaction and communication, repetitive behavior, and restricted interests. ASD has proven to have a strong genetic component. However, defining causal genes is still one of the main challenges in GWAS, since the vast majority (>90%) of detected signals lie within the non-coding genome. Expression quantitative trait locus (eQTL) colocalization analysis determines whether a specific variant is responsible for both a local eQTL and GWAS association and has helped leverage data and rendering gene discovery for a wide array of diseases. Here we further mine the largest ASD GWAS performed to date (18,381 cases and 27,969 controls) altogether with GWAS summary statistics f

SUBMITTER: Dominguez-Alonso S 

PROVIDER: S-EPMC10618232 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature