DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls

E. K. Green* (Corresponding Author), D. Grozeva, R. Sims, R. Raybould, L. Forty, K. Gordon-Smith, E. Russell, D. St. Clair, A. H. Young, I. N. Ferrier, G. Kirov, I. Jones, L. Jones, M. J. Owen, M. C. O'Donovan, N. Craddock

*Corresponding author for this work

Research output: Contribution to journalArticle

17 Citations (Scopus)


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).

Original languageEnglish
Pages (from-to)490-492
Number of pages3
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number4
Early online date28 Mar 2011
Publication statusPublished - 1 Jun 2011



  • DISC1
  • Rare variants
  • Schizoaffective spectrum

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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