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).
|Number of pages||3|
|Journal||American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics|
|Early online date||28 Mar 2011|
|Publication status||Published - 1 Jun 2011|
- Rare variants
- Schizoaffective spectrum