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

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

doi:10.1002/ajmg.b.31187

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

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

Birmingham Medical School

Research output: Contribution to journal › Article

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). (C) 2011 Wiley-Liss, Inc.

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

Keywords

schizoaffective spectrum
DISC1
rare variants

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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, 156B(4), 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). (C) 2011 Wiley-Liss, Inc.",

keywords = "schizoaffective spectrum, DISC1, rare variants",

author = "EK Green and D Grozeva and R Sims and R Raybould and L Forty and Katherine Gordon-Smith and E Russell and {St Clair}, D and AH Young and IN Ferrier and G Kirov and I Jones and Lisa Jones and MJ Owen and MC O'Donovan and N Craddock",

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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. 156B, no. 4, pp. 490-492. https://doi.org/10.1002/ajmg.b.31187

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T1 - DISC1 Exon 11 Rare Variants Found More Commonly in Schizoaffective Spectrum Cases Than Controls

AU - Green, EK

AU - Grozeva, D

AU - Sims, R

AU - Raybould, R

AU - Forty, L

AU - Gordon-Smith, Katherine

AU - Russell, E

AU - St Clair, D

AU - Young, AH

AU - Ferrier, IN

AU - Kirov, G

AU - Jones, I

AU - Jones, Lisa

AU - Owen, MJ

AU - O'Donovan, MC

AU - Craddock, N

PY - 2011/6/1

Y1 - 2011/6/1

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). (C) 2011 Wiley-Liss, Inc.

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). (C) 2011 Wiley-Liss, Inc.

KW - schizoaffective spectrum

KW - DISC1

KW - rare variants

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DO - 10.1002/ajmg.b.31187

M3 - Article

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JO - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

JF - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

IS - 4

ER -

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

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Keywords

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