ArticleTranslational psychiatry2017
Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders.
Article in Translational psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Chemokine Dysregulation and Neuroinflammation in Schizophrenia: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Linking Inflammation, Aberrant Glutamate-Dopamine Interaction, and Post-synaptic Changes: Translational Relevance for Schizophrenia and Antipsychotic Treatment: a Systematic Review.Molecular neurobiology · 2022Pooled it
- The CX3CL1-CX3CR1 axis in HIV-associated inflammation and cardiometabolic disease.American journal of physiology. Regulatory, integrative and comparative physiology · 2026Review
- Article
- Microglial Maturation and Functional Heterogeneity: Mechanistic Links to Neurodevelopmental Disorders.International journal of molecular sciences · 2026Review
- Cumulative environmental exposures adversely impact social behaviour and are associated with dysregulation of genes and proteins involved in epigenetic, ribosomal, and immune regulation in male mice.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- A vicious cycle of microglial dysfunction: bridging synaptic pruning and neuroinflammation across the neurodevelopmental continuum.Frontiers in immunology · 2026Review
- Article
- Cerebellar white matter development is regulated by fractalkine-dependent microglia phagocytosis of oligodendrocyte progenitor cells.iScience · 2025Article
- Fractalkine and Neuroinflammation in Autism Spectrum Disorder: A Novel Perspective.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2025Article
- Biological sex, microglial signaling pathways, and radiation exposure shape cortical proteomic profiles and behavior in mice.Brain, behavior, & immunity - health · 2025Article
- Astrocyte-dependent local neurite pruning in Beat-Va neurons.The Journal of cell biology · 2025Article
- Neuroinflammatory Loop in Schizophrenia, Is There a Relationship with Symptoms or Cognition Decline?International journal of molecular sciences · 2025Review
- Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024Article
- CX3CL1 (Fractalkine)-CX3CR1 Axis in Inflammation-Induced Angiogenesis and Tumorigenesis.International journal of molecular sciences · 2024Review
- The Impact of Microglia on Neurodevelopment and Brain Function in Autism.Biomedicines · 2024Review
- Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome.Brain : a journal of neurology · 2024Article
- Neurodevelopmental and Neuropsychiatric Disorders.Advances in neurobiology · 2024Review
- Microglia-neuron interactions in schizophrenia.Frontiers in cellular neuroscience · 2024Review
- Review
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CX3CR1, a G protein-coupled receptor solely expressed by microglia in the brain, has been repeatedly reported to be associated with neurodevelopmental disorders including schizophrenia (SCZ) and autism spectrum disorders (ASD) in transcriptomic and animal studies but not in genetic studies. To address the impacts of variants in CX3CR1 on neurodevelopmental disorders, we conducted coding exon-targeted resequencing of CX3CR1 in 370 Japanese SCZ and 192 ASD patients using next-generation sequencing technology, followed by a genetic association study in a sample comprising 7054 unrelated individuals (2653 SCZ, 574 ASD and 3827 controls). We then performed in silico three-dimensional (3D) structural modeling and in vivo disruption of Akt phosphorylation to determine the impact of the detected variant on CX3CR1-dependent signal transduction. We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). A 3D structural model indicated that Ala55Thr could destabilize the conformation of the CX3CR1 helix 8 and affect its interaction with a heterotrimeric G protein. In vitro functional analysis showed that the CX3CR1-Ala55Thr mutation inhibited cell signaling induced by fractalkine, the ligand for CX3CR1. The combined data suggested that the variant Ala55Thr in CX3CR1 might result in the disruption of CX3CR1 signaling. Our results strengthen the association between microglia-specific genes and neurodevelopmental disorders.
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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.