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

Green, Elaine Karen, Grozeva, Detelina, Sims, Rebecca, Raybould, Rachel, Forty, Elizabeth, Gordon-Smith, K., Russell, Elen, St. Clair, D., Young, A.H., Ferrier, I.N., Kirov, George, Jones, Ian Richard, Jones, L., Owen, Michael John, O'Donovan, Michael Conlon and Craddock, Nicholas John 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 Feb 2022 10:39

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