DISC1 Exon 11 Rare Variants Found More Commonly in Schizoaffective Spectrum Cases Than Controls

Research output: Contribution to journalArticle


  • EK Green
  • D Grozeva
  • R Sims
  • R Raybould
  • L Forty
  • E Russell
  • D St Clair
  • AH Young
  • IN Ferrier
  • G Kirov
  • I Jones
  • MJ Owen
  • MC O'Donovan
  • N Craddock

Colleges, School and Institutes


We previously performed a linkage study using families identified through probands meeting criteria for DSM-IV schizoaffective disorder, bipolar type (SABP) and observed a genome-wide significant signal (LOD = 3.54) at chromosome 1q42 close to DISC1. An initial sequencing study of DISC1 using 14 unrelated DSM-IV SABP samples from the linkage study identified 2 non-synonymous coding SNPs in exon 11 in 2 separate individuals. Here we provide evidence of additional rare coding SNPs within exon 11. In sequencing exon 11 in 506 cases and 1,211 controls for variants that occurred only once, 4 additional rare variants were found in cases (P-value = 0.008, Fisher's exact trend test). (C) 2011 Wiley-Liss, Inc.


Original languageEnglish
Pages (from-to)490-492
Number of pages3
JournalAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Issue number4
Publication statusPublished - 1 Jun 2011


  • schizoaffective spectrum, DISC1, rare variants