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

Green, Elaine Karen, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Raybould, Rachel, Forty, Elizabeth, Gordon-Smith, K., Russell, Elen, St. Clair, D., Young, A.H., Ferrier, I.N., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 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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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).

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Schools > Medicine Research Institutes & Centres > Neuroscience and Mental Health Research Institute (NMHII)
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
URI:	https://orca.cardiff.ac.uk/id/eprint/22173

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