ArticleTranslational psychiatry2020
Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder.
Article in Translational psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Autism spectrum disorder and schizophrenia: An updated conceptual review.Autism research : official journal of the International Society for Autism Research · 2022Pooled it
- The JMJD family histone demethylases: structure, mechanism of action, diseases and therapeutic targets.Molecular biomedicine · 2026Review
- Rare KDM4C variants and reduced expression underlie epigenetic dysregulation in rheumatoid arthritis.Immunologic research · 2026Article
- Mutation of the histone demethylase Gasc1 causes ASD-like symptoms in mice.Inflammation and regeneration · 2025Article
- Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.bioRxiv : the preprint server for biology · 2025Article
- Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population.Psychiatry and clinical neurosciences · 2025Article
- Insights into the Role of Histone Methylation in Brain Aging and Potential Therapeutic Interventions.International journal of molecular sciences · 2023Review
- Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases.Signal transduction and targeted therapy · 2023Review
- Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments.International journal of molecular sciences · 2023Article
- KDM4 Demethylases: Structure, Function, and Inhibitors.Advances in experimental medicine and biology · 2023Article
- De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.Human genomics · 2022Article
- Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype.Journal of medical genetics · 2022Article
- Autosomal recessiveCold Spring Harbor molecular case studies · 2022Article
- Histone Acetylation and Methylation Underlie Oligodendroglial and Myelin Susceptibility in Schizophrenia.Frontiers in cellular neuroscience · 2022Review
Corrections and comments
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Authors and funding
33 authors at 9 institutions in 1 country.
Funding
Abstract
Dysregulation of epigenetic processes involving histone methylation induces neurodevelopmental impairments and has been implicated in schizophrenia (SCZ) and autism spectrum disorder (ASD). Variants in the gene encoding lysine demethylase 4C (KDM4C) have been suggested to confer a risk for such disorders. However, rare genetic variants in KDM4C have not been fully evaluated, and the functional impact of the variants has not been studied using patient-derived cells. In this study, we conducted copy number variant (CNV) analysis in a Japanese sample set (2605 SCZ and 1141 ASD cases, and 2310 controls). We found evidence for significant associations between CNVs in KDM4C and SCZ (p = 0.003) and ASD (p = 0.04). We also observed a significant association between deletions in KDM4C and SCZ (corrected p = 0.04). Next, to explore the contribution of single nucleotide variants in KDM4C, we sequenced the coding exons in a second sample set (370 SCZ and 192 ASD cases) and detected 18 rare missense variants, including p.D160N within the JmjC domain of KDM4C. We, then, performed association analysis for p.D160N in a third sample set (1751 SCZ and 377 ASD cases, and 2276 controls), but did not find a statistical association with these disorders. Immunoblotting analysis using lymphoblastoid cell lines from a case with KDM4C deletion revealed reduced KDM4C protein expression and altered histone methylation patterns. In conclusion, this study strengthens the evidence for associations between KDM4C CNVs and these two disorders and for their potential functional effect on histone methylation patterns.
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