ArticleBiological psychiatry2012
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.
Article in Biological psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 2 of them syntheses that pooled it.
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Who cites it
94 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Altered expression of histamine signaling genes in autism spectrum disorder.Translational psychiatry · 2017Pooled it
- Systematic review: pharmacological treatment of tic disorders--efficacy of antipsychotic and alpha-2 adrenergic agonist agents.Neuroscience and biobehavioral reviews · 2013Pooled it
- Clinical Profile and Plasma Vitamin B6 Levels in Children with Tourette Syndrome: A Case-control Study.Indian journal of psychological medicine · 2026Article
- Computational Identification of Blood-Brain Barrier-Permeant Microbiome Metabolites with Binding Affinity to Neurotransmitter Receptors in Neurodevelopmental Disorders.Molecules (Basel, Switzerland) · 2026Article
- Addressing co-occurring conditions in behavioural therapy for tic disorders: a review and guideline.European child & adolescent psychiatry · 2024Review
- Identification of Novel Genes and Pathways of Ovarian Cancer Using a Comprehensive Bioinformatic Framework.Applied biochemistry and biotechnology · 2024Article
- Activity-Dependent Transcriptional Program in NGN2+ Neurons Enriched for Genetic Risk for Brain-Related Disorders.Biological psychiatry · 2024Article
- Microbiota profiling reveals alteration of gut microbial neurotransmitters in a mouse model of autism-associated 16p11.2 microduplication.Frontiers in microbiology · 2024Article
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- Review
- The shared genetic risk factors between Tourette syndrome and obsessive-compulsive disorder.Frontiers in neurology · 2023Review
- Identity-by-descent analysis of a large Tourette's syndrome pedigree from Costa Rica implicates genes involved in neuronal development and signal transduction.Molecular psychiatry · 2022Article
- Tic Disorders, Anti-Tic Medications, and Risk of Atopy.Movement disorders clinical practice · 2022Article
- Article
- Current understanding of the genetics of tourette syndrome.Biomedical journal · 2022Review
- Role of histidine decarboxylase gene in the pathogenesis of Tourette syndrome.Brain and behavior · 2022Review
- White matter abnormalities in theFrontiers in molecular neuroscience · 2022Article
- Tourettic OCD: Current understanding and treatment challenges of a unique endophenotype.Frontiers in psychiatry · 2022Review
- Genetic architecture of Tourette syndrome: our current understanding.Psychological medicine · 2021Review
- The Histaminergic System in Neuropsychiatric Disorders.Biomolecules · 2021Review
34 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors.
Funding
Abstract
backgroundStudies of copy number variation (CNV) have characterized loci and molecular pathways in a range of neuropsychiatric conditions. We analyzed rare CNVs in Tourette syndrome (TS) to identify novel risk regions and relevant pathways, to evaluate burden of structural variation in cases versus controls, and to assess overlap of identified variations with those in other neuropsychiatric syndromes.
methodsWe conducted a case-control study of 460 individuals with TS, including 148 parent-child trios and 1131 controls. CNV analysis was undertaken using 370 K to 1 M probe arrays, and genotyping data were used to match cases and controls for ancestry. CNVs present in < 1% of the population were evaluated.
resultsWhile there was no significant increase in the number of de novo or transmitted rare CNVs in cases versus controls, pathway analysis using multiple algorithms showed enrichment of genes within histamine receptor (subtypes 1 and 2) signaling pathways (p = 5.8 × 10(-4) - 1.6 × 10(-2)), as well as axon guidance, cell adhesion, nervous system development, and synaptic structure and function processes. Genes mapping within rare CNVs in TS showed significant overlap with those previously identified in autism spectrum disorders but not intellectual disability or schizophrenia. Three large, likely pathogenic, de novo events were identified, including one disrupting multiple gamma-aminobutyric acid receptor genes.
conclusionsWe identify further evidence supporting recent findings regarding the involvement of histaminergic and gamma-aminobutyric acidergic mechanisms in the etiology of TS and show an overlap of rare CNVs in TS and autism spectrum disorders.
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