Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder.

ABSTRACT:

Purpose

Pediatric attention deficit hyperactivity disorder (ADHD, OMIM 143465) is highly heritable, yet the genetic architecture of the condition remains poorly understood. This study tested the hypothesis that rare and common genetic variants reflect distinct genetic pathways to ADHD.

Methods

Genome sequencing was completed for 150 pediatric ADHD cases and 370 controls. ADHD polygenic scores were derived and compared across 5 methods, including 2 published genome-wide association studies and 2 publicly available catalogs. Likely pathogenic rare variants were identified with a previously published customized annotation and classification pipeline followed by manual curation using established American College of Medical Genetics and Genomics variant interpretation guidelines.

SUBMITTER: Arnett AB 

PROVIDER: S-EPMC12637209 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature