How to Cite this Article: 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. Am J Med Genet Part B 156:490–492.
DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls†
Article first published online: 28 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 156, Issue 4, pages 490–492, June 2011
How to Cite
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. and Craddock, N. (2011), DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls. Am. J. Med. Genet., 156: 490–492. doi: 10.1002/ajmg.b.31187
- Issue published online: 25 APR 2011
- Article first published online: 28 MAR 2011
- Manuscript Accepted: 3 MAR 2011
- Manuscript Received: 29 OCT 2010
- Wellcome Trust
- Medical Research Council
- schizoaffective spectrum;
- rare variants
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). © 2011 Wiley-Liss, Inc.