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Recent genomic advances in schizophrenia

Doherty, Joanne L., O'Donovan, Michael Conlon ORCID: and Owen, Michael John ORCID: 2012. Recent genomic advances in schizophrenia. Clinical Genetics 81 (2) , pp. 103-109. 10.1111/j.1399-0004.2011.01773.x

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Recent studies have supported the hypothesis based upon expectations from population genetics that the high heritability of schizophrenia reflects a combination of relatively common alleles of small effect and rare alleles some with relatively large effects. Genome-wide association studies have identified a number of risk loci at genome-wide levels of significance as well as evidence for a substantial burden of common risk loci. Moreover these recent findings suggest genetic overlap with bipolar disorder which has traditionally been assumed to be genetically distinct from schizophrenia. Genome-wide studies of at least one class of relatively uncommon variant, submicroscopic chromosomal abnormalities often referred to as copy number variations (CNVs), suggest that these confer high risk of schizophrenia. There is evidence both for an increased burden of large, rare CNVs in schizophrenia and that risk is conferred by a number of specific large CNVs as well as by deletions of NRXN1 which encodes the synaptic scaffolding protein neurexin 1. Many of these CNVs have been implicated in autism, mental retardation, epilepsy and other neurodevelopment disorders. These findings have implications for pathogenesis and nosology of schizophrenia and related disorders, and for future genetic studies.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: bipolar disorder, copy number variation, genetics, genome, GWAS, psychosis, schizophrenia, SNPs
Publisher: Wiley-Blackwell
ISSN: 0009-9163
Last Modified: 20 Oct 2022 07:48

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