Exome-wide rare variant genetic load is associated with cognition, intellectual disability and psychiatric disorders in population-based cohorts

Rare protein-truncating variants (PTVs) and damaging missense variants in constrained genes are enriched among people with autism spectrum disorder (ASD), schizophrenia and related conditions, but most studies used clinical cohorts. In European-ancestry participants of the Adolescent Brain Cognitive Development Study (ABCD, 3,523 children) and the All of Us Research Program (AoU, 302,421 adults), we summed, separately for rare PTVs and damaging missense variants, the selection coefficients of affected genes into genetic loads (GLs). In ABCD, one additional typical constrained gene with a PTV w

This content is for informational purposes only and is not medical advice. It is not intended to diagnose, treat, cure, or prevent any disease. Consult a healthcare professional before starting any supplement, treatment, or program — especially if you are pregnant, nursing, taking medication, or managing a health condition.