Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes.

ABSTRACT: Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder, but its genetic architecture remains incompletely characterized. Rare coding variants, which can profoundly impact gene function, represent an underexplored dimension of ADHD risk. In this study, we analyzed large-scale DNA sequencing datasets from ancestrally diverse cohorts and observed significant enrichment of rare protein-truncating and deleterious missense variants in highly evolutionarily constrained genes. This analysis identified 15 high-confidence ADHD risk genes, including the previously implicated KDM5B. Integrating these findings with genome-wide association study (GWAS) data revealed nine enriched pathways, with strong involvement in synapse organization, neuronal develop

SUBMITTER: Jung S 

PROVIDER: S-EPMC11759603 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature