ArticlePloS one2013
Defining the contribution of CNTNAP2 to autism susceptibility.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Pooled it
- CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches.Journal of neural transmission (Vienna, Austria : 1996) · 2016Pooled it
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.Human genetics · 2023Review
- CNTNAP2 Protein Is Degraded by the Ubiquitin-Proteasome System and the Macroautophagy-Lysosome Pathway.Molecular neurobiology · 2023Article
- Intermittent hypoxia-induced enhancement of sociability and working memory associates with CNTNAP2 upregulation.Frontiers in molecular neuroscience · 2023Article
- Neuronal Cell Adhesion Molecules May Mediate Neuroinflammation in Autism Spectrum Disorder.Frontiers in psychiatry · 2022Review
- Glutamatergic Dysfunction and Synaptic Ultrastructural Alterations in Schizophrenia and Autism Spectrum Disorder: Evidence from Human and Rodent Studies.International journal of molecular sciences · 2020Review
- Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.PLoS genetics · 2018Article
- IntragenicMolecular syndromology · 2017Review
- Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2).The Journal of biological chemistry · 2016Article
- Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.Biomolecules & therapeutics · 2016Review
- A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Frontiers in cellular neuroscience · 2016Review
- Behavioral phenotypes of genetic mouse models of autism.Genes, brain, and behavior · 2016Review
- Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date.CNS drugs · 2015Review
- Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.Molecular syndromology · 2015Review
- Interaction effect between handedness and CNTNAP2 polymorphism (rs7794745 genotype) on voice-specific frontotemporal activity in healthy individuals: an fMRI study.Frontiers in behavioral neuroscience · 2015Article
- Article
- A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.Neurobiology of disease · 2014Article
- Synaptic proteins and receptors defects in autism spectrum disorders.Frontiers in cellular neuroscience · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Multiple lines of genetic evidence suggest a role for CNTNAP2 in autism. To assess its population impact we studied 2148 common single nucleotide polymorphisms (SNPs) using transmission disequilibrium test (TDT) across the entire ~3.3 Mb CNTNAP2 locus in 186 (408 trios) multiplex and 323 simplex families with autistic spectrum disorder (ASD). This analysis yielded two SNPs with nominal statistical significance (rs17170073, p = 2.0 x 10(-4); rs2215798, p = 1.6 x 10(-4)) that did not survive multiple testing. In a combined analysis of all families, two highly correlated (r (2) = 0.99) SNPs in intron 14 showed significant association with autism (rs2710093, p = 9.0 x 10(-6); rs2253031, p = 2.5 x 10(-5)). To validate these findings and associations at SNPs from previous autism studies (rs7794745, rs2710102 and rs17236239) we genotyped 2051 additional families (572 multiplex and 1479 simplex). None of these variants were significantly associated with ASD after corrections for multiple testing. The analysis of Mendelian errors within each family did not indicate any segregating deletions. Nevertheless, a study of CNTNAP2 gene expression in brains of autistic patients and of normal controls, demonstrated altered expression in a subset of patients (p = 1.9 x10(-5)). Consequently, this study suggests that although CNTNAP2 dysregulation plays a role in some cases, its population contribution to autism susceptibility is limited.
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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.