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)

Abstract

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
Volume156
Issue number4
Early online date28 Mar 2011
DOIs
Publication statusPublished - 1 Jun 2011

Fingerprint

Exons
Diagnostic and Statistical Manual of Mental Disorders
Psychotic Disorders
Single Nucleotide Polymorphism
Chromosomes
Genome

Keywords

  • DISC1
  • Rare variants
  • Schizoaffective spectrum

ASJC Scopus subject areas

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

Cite this

DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls. / Green, E. K. (Corresponding Author); Grozeva, D.; Sims, R.; Raybould, R.; Forty, L.; Gordon-Smith, K.; Russell, E.; St. Clair, D.; Young, A. H.; Ferrier, I. N.; Kirov, G.; Jones, I.; Jones, L.; Owen, M. J.; O'Donovan, M. C.; Craddock, N.

In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 156, No. 4, 01.06.2011, p. 490-492.

Research output: Contribution to journalArticle

Green, EK, Grozeva, D, Sims, R, Raybould, R, Forty, L, Gordon-Smith, K, Russell, E, St. Clair, D, Young, AH, Ferrier, IN, Kirov, G, Jones, I, Jones, L, Owen, MJ, O'Donovan, MC & Craddock, N 2011, 'DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls', American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, vol. 156, no. 4, pp. 490-492. https://doi.org/10.1002/ajmg.b.31187
Green, E. K. ; Grozeva, D. ; Sims, R. ; Raybould, R. ; Forty, L. ; Gordon-Smith, K. ; Russell, E. ; St. Clair, D. ; Young, A. H. ; Ferrier, I. N. ; Kirov, G. ; Jones, I. ; Jones, L. ; Owen, M. J. ; O'Donovan, M. C. ; Craddock, N. / DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls. In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 2011 ; Vol. 156, No. 4. pp. 490-492.
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