title: The impact of copy number deletions on general cognitive ability and ventricle size in patients with schizophrenia and healthy control subjects.
abstract: BACKGROUND
  General cognitive ability is usually lower in individuals with schizophrenia, partly due to genetic influences. However, the specific genetic features related to general cognitive ability are poorly understood. Individual variation in a specific type of mutation, uncommon genetic deletions, has recently been linked with both general cognitive ability and risk for schizophrenia.
  
  
  METHODS
  We derived measures of the aggregate number of "uncommon" deletions (i.e., those occurring in 3% or less of our combined samples) and the total number of base pairs affected by these deletions in individuals with schizophrenia (n = 79) and healthy control subjects (n = 110) and related each measure to the first principal component of a large battery of cognitive tests, a common technique for characterizing general cognitive ability. These two measures of mutation load were also evaluated for relationships with total brain gray matter, white matter, and lateral ventricle volume.
  
  
  RESULTS
  The groups did not differ on genetic variables. Multivariate general linear models revealed a group (control subjects vs. patients) × uncommon deletion number interaction, such that the latter variable was associated with lower general cognitive ability and larger ventricles in patients but not control subjects.
  
  
  CONCLUSIONS
  These data suggest that aggregate uncommon deletion burden moderates central features of the schizophrenia phenotype.
authors.affiliation: Department of Psychology, University of New Mexico, Albuquerque, New Mexico, USA. ryeo@unm.edu
authors.forename: Ronald A
authors.initials: RA
authors.lastname: Yeo
authors.forename: Steven W
authors.initials: SW
authors.lastname: Gangestad
authors.forename: Jingyu
authors.initials: J
authors.lastname: Liu
authors.forename: Stefan
authors.initials: S
authors.lastname: Ehrlich
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Thoma
authors.forename: Jessica
authors.initials: J
authors.lastname: Pommy
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Mayer
authors.forename: S Charles
authors.initials: SC
authors.lastname: Schulz
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Wassink
authors.forename: Eric M
authors.initials: EM
authors.lastname: Morrow
authors.forename: Juan R
authors.initials: JR
authors.lastname: Bustillo
authors.forename: Scott R
authors.initials: SR
authors.lastname: Sponheim
authors.forename: Beng-Choon
authors.initials: BC
authors.lastname: Ho
authors.forename: Vince D
authors.initials: VD
authors.lastname: Calhoun
mesh_terms: D000328:Adult; D001284:Atrophy / Q000473:pathology; D016022:Case-Control Studies; D003071:Cognition; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D020547:Lateral Ventricles / Q000473:pathology*; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D036421:Nerve Fibers, Unmyelinated / Q000473:pathology; D059906:Neuroimaging; D009483:Neuropsychological Tests; D012559:Schizophrenia / Q000235:genetics* / Q000473:pathology*; D012565:Schizophrenic Psychology