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).
authors: MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, United Kingdom. greenek@cf.ac.uk
authors: E K
authors: EK
authors: Green
authors: D
authors: D
authors: Grozeva
authors: R
authors: R
authors: Sims
authors: R
authors: R
authors: Raybould
authors: L
authors: L
authors: Forty
authors: K
authors: K
authors: Gordon-Smith
authors: E
authors: E
authors: Russell
authors: D
authors: D
authors: St Clair
authors: A H
authors: AH
authors: Young
authors: I N
authors: IN
authors: Ferrier
authors: G
authors: G
authors: Kirov
authors: I
authors: I
authors: Jones
authors: L
authors: L
authors: Jones
authors: M J
authors: MJ
authors: Owen
authors: M C
authors: MC
authors: O'Donovan
authors: N
authors: N
authors: Craddock
mesh_terms: D001714:Bipolar Disorder / Q000235:genetics; D016022:Case-Control Studies; D005091:Exons; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011618:Psychotic Disorders / Q000235:genetics*
chemical_list: C412476:DISC1 protein, human; D009419:Nerve Tissue Proteins