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

Green, Elaine Karen, Grozeva, Detelina ORCID:, Sims, Rebecca ORCID:, Raybould, Rachel, Forty, Elizabeth, Gordon-Smith, K., Russell, Elen, St. Clair, D., Young, A.H., Ferrier, I.N., Kirov, George ORCID:, Jones, Ian Richard ORCID:, Jones, L., Owen, Michael John ORCID:, O'Donovan, Michael Conlon ORCID: and Craddock, Nicholas John ORCID: 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) , pp. 490-492. 10.1002/ajmg.b.31187

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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).

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: DISC1; schizoaffective spectrum; rare variants
Publisher: Wiley
ISSN: 1552-4841
Last Modified: 05 Nov 2022 15:01

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