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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
neuroscience
Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene
Neuron, Volume 82, No. 4, Year 2014
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Description
Loss-of-function (LOF) (i.e., nonsense, splice site, and frameshift) variants that lead to disruption of gene function are likely to contribute to the etiology of neuropsychiatric disorders. Here, we perform a systematic investigation of the role of both de novo and inherited LOF variants in schizophrenia using exome sequencing data from 231 case and 34 control trios. We identify two de novo LOF variants in the SETD1A gene, which encodes a subunit of histone methyltransferase, a finding unlikely to have occurred by chance, and provide evidence for a more general role of chromatin regulators in schizophrenia risk. Transmission pattern analyses reveal that LOF variants are more likely to be transmitted to affected individuals than controls. This is especially true for private LOF variants in genes intolerant to functional genetic variation. These findings highlight the contribution of LOF mutations to the genetic architecture of schizophrenia and provide important insights into disease pathogenesis. © 2014 Elsevier Inc.
Authors & Co-Authors
Takata, Atsushi
United States, New York
Columbia University Irving Medical Center
Xu, Bin
United States, New York
Columbia University Irving Medical Center
Ionita-Laza, Iuliana
United States, New York
Columbia University Irving Medical Center
Roos, J. L.
South Africa, Pretoria
University of Pretoria
Gogos, Joseph A.
United States, New York
Columbia University Irving Medical Center
Karayiorgou, Maria
United States, New York
Columbia University Irving Medical Center
United States, New York
New York State Psychiatric Institute
Statistics
Citations: 175
Authors: 6
Affiliations: 3
Identifiers
Doi:
10.1016/j.neuron.2014.04.043
ISSN:
08966273
e-ISSN:
10974199
Research Areas
Genetics And Genomics
Mental Health