Confirmed rare copy number variants implicate novel genes in schizophrenia.

Abstract:

:Understanding how cognitive processes including learning, memory, decision making and ideation are encoded by the genome is a key question in biology. Identification of sets of genes underlying human mental disorders is a path towards this objective. Schizophrenia is a common disease with cognitive symptoms, high heritability and complex genetics. We have identified genes involved with schizophrenia by measuring differences in DNA copy number across the entire genome in 91 schizophrenia cases and 92 controls in the Scottish population. Our data reproduce rare and common variants observed in public domain data from >3000 schizophrenia cases, confirming known disease loci as well as identifying novel loci. We found copy number variants in PDE10A (phosphodiesterase 10A), CYFIP1 [cytoplasmic FMR1 (Fragile X mental retardation 1)-interacting protein 1], K(+) channel genes KCNE1 and KCNE2, the Down's syndrome critical region 1 gene RCAN1 (regulator of calcineurin 1), cell-recognition protein CHL1 (cell adhesion molecule with homology with L1CAM), the transcription factor SP4 (specificity protein 4) and histone deacetylase HDAC9, among others (see http://www.genes2cognition.org/SCZ-CNV). Integrating the function of these many genes into a coherent model of schizophrenia and cognition is a major unanswered challenge.

journal_name

Biochem Soc Trans

authors

Tam GW,van de Lagemaat LN,Redon R,Strathdee KE,Croning MD,Malloy MP,Muir WJ,Pickard BS,Deary IJ,Blackwood DH,Carter NP,Grant SG

doi

10.1042/BST0380445

subject

Has Abstract

pub_date

2010-04-01 00:00:00

pages

445-51

issue

2

eissn

0300-5127

issn

1470-8752

pii

BST0380445

journal_volume

38

pub_type

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