Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders

JAMA Psychiatry. 2022 Jan 1;79(1):78-81. doi: 10.1001/jamapsychiatry.2021.3211.


This study examines 2 gene-level metrics of variation constraint against protein-truncating variants—probability of loss-of-function intolerance and loss-of-function observed/expected upper bound fraction—and their association with the psychiatric consequences of both recurrent and nonrecurrent gene deletions.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Deletion*
  • Humans
  • Loss of Function Mutation / genetics*
  • Mental Disorders / complications
  • Mental Disorders / epidemiology
  • Mental Disorders / genetics*
  • Odds Ratio
  • United Kingdom / epidemiology