title: Mosaic copy number variation in schizophrenia.
abstract: Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single-nucleotide polymorphism genotyping arrays for evidence of chromosomal anomalies. Data from genotyping arrays on each individual were processed using Birdsuite and analyzed with PLINK. We validated potential chromosomal anomalies using custom nanostring probes and quantitative PCR. We estimate chromosomal alterations in the schizophrenia population to be 0.42%, which is not significantly different from controls (0.26%). We identified and validated a set of four extremely large (>10 Mb) chromosomal anomalies in subjects with schizophrenia, including a chromosome 8 trisomy and deletion of the q arm of chromosome 7. These data demonstrate that chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects.
authors: Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
authors: Douglas M
authors: DM
authors: Ruderfer
authors: Kim
authors: K
authors: Chambert
authors: Jennifer
authors: J
authors: Moran
authors: Michael
authors: M
authors: Talkowski
authors: Elizabeth S
authors: ES
authors: Chen
authors: Carolina
authors: C
authors: Gigek
authors: James F
authors: JF
authors: Gusella
authors: Douglas H
authors: DH
authors: Blackwood
authors: Aiden
authors: A
authors: Corvin
authors: Hugh M
authors: HM
authors: Gurling
authors: Christina M
authors: CM
authors: Hultman
authors: George
authors: G
authors: Kirov
authors: Patrick
authors: P
authors: Magnusson
authors: Michael C
authors: MC
authors: O'Donovan
authors: Michael J
authors: MJ
authors: Owen
authors: Carlos
authors: C
authors: Pato
authors: David
authors: D
authors: St Clair
authors: Patrick F
authors: PF
authors: Sullivan
authors: Shaun M
authors: SM
authors: Purcell
authors: Pamela
authors: P
authors: Sklar
authors: Carl
authors: C
authors: Ernst
mesh_terms: D016022:Case-Control Studies; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008126:Lod Score; D009030:Mosaicism; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics*; D017384:Sequence Deletion; D014314:Trisomy