ArticleNature communications2015
Genome-wide burden of deleterious coding variants increased in schizophrenia.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- The genetic basis of onset age in schizophrenia: evidence and models.Frontiers in genetics · 2023Review
- A Neurodevelopment Approach for a Transitional Model of Early Onset Schizophrenia.Brain sciences · 2021Review
- Publicly Available hiPSC Lines with Extreme Polygenic Risk Scores for Modeling Schizophrenia.Complex psychiatry · 2021Article
- Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk.Journal of medical genetics · 2020Article
- Genetics of Childhood-onset Schizophrenia 2019 Update.Child and adolescent psychiatric clinics of North America · 2020Review
- Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia.Translational psychiatry · 2019Article
- Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.Scientific reports · 2019Article
- A Longitudinal Model of Human Neuronal Differentiation for Functional Investigation of Schizophrenia Polygenic Risk.Biological psychiatry · 2019Article
- New considerations for hiPSC-based models of neuropsychiatric disorders.Molecular psychiatry · 2019Review
- Double hits in schizophrenia.Human molecular genetics · 2018Article
- ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties.Molecular psychiatry · 2018Article
- Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.Translational psychiatry · 2018Article
- Whole exome association of rare deletions in multiplex oral cleft families.Genetic epidemiology · 2017Article
- Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive.EBioMedicine · 2016Article
- Modeling psychiatric disorders: from genomic findings to cellular phenotypes.Molecular psychiatry · 2016Review
- Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
Schizophrenia is a common complex disorder with polygenic inheritance. Here we show that by using an approach that compares the individual loads of rare variants in 1,042 schizophrenia cases and 961 controls, schizophrenia cases carry an increased burden of deleterious mutations. At a genome-wide level, our results implicate non-synonymous, splice site as well as stop-altering single-nucleotide variations occurring at minor allele frequency of ≥ 0.01% in the population. In an independent replication sample of 5,585 schizophrenia cases and 8,103 controls of European ancestry we confirm an enrichment in cases of the alleles identified in our study. In addition, the genes implicated by the increased burden of rare coding variants highlight the involvement of neurodevelopment in the aetiology of schizophrenia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.