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

E. K. Green; 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

doi:10.1002/ajmg.b.31187

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 journal › Article › peer-review

18 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 language	English
Pages (from-to)	490-492
Number of pages	3
Journal	American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume	156
Issue number	4
Early online date	28 Mar 2011
DOIs	https://doi.org/10.1002/ajmg.b.31187
Publication status	Published - 1 Jun 2011

Keywords

DISC1
Rare variants
Schizoaffective spectrum

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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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. (2011). DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 156(4), 490-492. https://doi.org/10.1002/ajmg.b.31187

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

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title = "DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls",

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).",

keywords = "DISC1, Rare variants, Schizoaffective spectrum",

author = "Green, {E. K.} and D. Grozeva and R. Sims and R. Raybould and L. Forty and K. Gordon-Smith and E. Russell and {St. Clair}, D. and Young, {A. H.} and Ferrier, {I. N.} and G. Kirov and I. Jones and L. Jones and Owen, {M. J.} and O'Donovan, {M. C.} and N. Craddock",

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doi = "10.1002/ajmg.b.31187",

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AU - Green, E. K.

AU - Grozeva, D.

AU - Sims, R.

AU - Raybould, R.

AU - Forty, L.

AU - Gordon-Smith, K.

AU - Russell, E.

AU - St. Clair, D.

AU - Young, A. H.

AU - Ferrier, I. N.

AU - Kirov, G.

AU - Jones, I.

AU - Jones, L.

AU - Owen, M. J.

AU - O'Donovan, M. C.

AU - Craddock, N.

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N2 - 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).

AB - 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).

KW - DISC1

KW - Rare variants

KW - Schizoaffective spectrum

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JO - American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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SN - 1552-4841

IS - 4

ER -

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

Abstract

Keywords

UN SDGs

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