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DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls
Author(s) -
Green E.K.,
Grozeva D.,
Sims R.,
Raybould R.,
Forty L.,
GordonSmith K.,
Russell E.,
St. Clair D.,
Young A.H.,
Ferrier I.N.,
Kirov G.,
Jones I.,
Jones L,
Owen M.J.,
O'Donovan M.C.,
Craddock N.
Publication year - 2011
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.31187
Subject(s) - genetics , proband , exon , biology , chromosome , single nucleotide polymorphism , disc1 , genotype , gene , mutation
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). © 2011 Wiley‐Liss, Inc.

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