ArticleBiological psychiatry2011
De novo rates and selection of schizophrenia-associated copy number variants.
Article in Biological psychiatry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it.
- De novo mutation in schizophrenia.Schizophrenia bulletin · 2012Pooled it
- A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia.Frontiers in genetics · 2025Review
- Atypical cortical networks in children at high-genetic risk of psychiatric and neurodevelopmental disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Genomic findings in schizophrenia and their implications.Molecular psychiatry · 2023Review
- Genomic insights into schizophrenia.Royal Society open science · 2023Article
- Current advancements of modelling schizophrenia using patient-derived induced pluripotent stem cells.Acta neuropathologica communications · 2022Review
- Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.Nature genetics · 2022Article
- Evolution and dysfunction of human cognitive and social traits: A transcriptional regulation perspective.Evolutionary human sciences · 2022Review
- Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.International journal of molecular sciences · 2021Review
- Translating insights from neuropsychiatric genetics and genomics for precision psychiatry.Genome medicine · 2020Review
- De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.Nature neuroscience · 2020Article
- Genomic Variation, Evolvability, and the Paradox of Mental Illness.Frontiers in psychiatry · 2020Article
- Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users.Molecular genetics & genomic medicine · 2019Article
- Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Article
- Schizophrenia risk and reproductive success: a Mendelian randomization study.Royal Society open science · 2019Article
- Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Article
- Reproductive fitness and genetic risk of psychiatric disorders in the general population.Nature communications · 2017Article
- NDE1 and NDEL1 from genes to (mal)functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness.Cellular and molecular life sciences : CMLS · 2017Review
- Positive Traits in the Bipolar Spectrum: The Space between Madness and Genius.Molecular neuropsychiatry · 2017Review
- Schizophrenia.Lancet (London, England) · 2016Review
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5 authors.
Funding
Abstract
backgroundAt least 10 large and rare recurrent DNA copy number variants (CNVs) have been identified as risk factors for schizophrenia and other neurodevelopmental disorders. Because such conditions are associated with reduced fecundity, these pathogenic CNVs should be filtered out from the population by selection and must be replenished by de novo events.
methodsTo estimate the mutation rate (μ) for these CNVs and the selection pressure (s) against them, we first conducted a literature review on the rate of each of these CNVs in the population and the rate of their de novo occurrence. In each generation, the number of CNVs lost because of reduced fertility must be replenished by the same number of de novo CNVs. Therefore, the observed ratio of de novo versus all (inherited + de novo) CNVs approximates the selection coefficient (s) of that CNV. The mutation rate approximates to μ = s × q, where q is the frequency of the CNV in the population.
resultsHigh selection pressure operates at all these loci (s = .12 - .88), suggesting that following de novo occurrence, each of these CNVs persists in the population in only a few generations. The mutation rate for each CNV is high, affecting between 1:3500 and 1:30,000 individuals. The rarest CNVs have the highest selection coefficients.
conclusionsThe CNVs that increase risk to develop schizophrenia are caused by recent de novo mutations and are under strong selection pressure. They persist in the population because of high mutation rates.
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