ArticleMolecular syndromology2014
A candidate gene association study further corroborates involvement of contactin genes in autism.
Article in Molecular syndromology, 2014. 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.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.Annals of the rheumatic diseases · 2019Pooled 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
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- Low Plasma Levels of Contactin-Associated Protein-Like 2 in Children with Autism Spectrum Disorder: Links to Neural Development.Neuropsychiatric disease and treatment · 2024Article
- Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing.Frontiers in genetics · 2024Article
- Article
- Contactin-6-deficient male mice exhibit the abnormal function of the accessory olfactory system and impaired reproductive behavior.Brain and behavior · 2023Article
- Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period.Journal of neurodevelopmental disorders · 2022Article
- Neuronal Cell Adhesion Molecules May Mediate Neuroinflammation in Autism Spectrum Disorder.Frontiers in psychiatry · 2022Review
- Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.PLoS genetics · 2018Article
- Intragenic Deletions May Involve Enhancer Sequences and AlterMolecular syndromology · 2018Article
- IntragenicMolecular syndromology · 2017Review
- CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.Molecular psychiatry · 2017Article
- Glycosylphosphatidylinositol-Anchored Immunoglobulin Superfamily Cell Adhesion Molecules and Their Role in Neuronal Development and Synapse Regulation.Frontiers in molecular neuroscience · 2017Review
- Disconnecting CNTNAP2.Molecular syndromology · 2016Article
- GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans.BMC genomics · 2016Article
- A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Frontiers in cellular neuroscience · 2016Review
- Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.Molecular syndromology · 2015Review
- CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.Journal of neurodevelopmental disorders · 2015Article
- All humans, great or small, short or tall.Molecular syndromology · 2014Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although autism spectrum disorder (ASD) shows a high degree of heritability, only a few mutated genes and mostly de novo copy number variations (CNVs) with a high phenotypic impact have as yet been identified. In families with multiple ASD patients, transmitted CNVs often do not appear to cosegregate with disease. Therefore, also transmitted single nucleotide variants which escape detection if genetic analyses were limited to CNVs may contribute to disease risk. In several studies of ASD patients, CNVs covering at least one gene of the contactin gene family were found. To determine whether there is evidence for a contribution of transmitted variants in contactin genes, a cohort of 67 ASD patients and a population-based reference of 117 healthy individuals, who were not related to the ASD families, were compared. In total, 1,648 SNPs, spanning 12.1 Mb of genomic DNA, were examined. After Bonferroni correction for multiple testing, the strongest signal was found for a SNP located within the CNTN5 gene (rs6590473 [G], p = 4.09 × 10(-7); OR = 3.117; 95% CI = 1.603-6.151). In the ASD cohort, a combination of risk alleles of SNPs in CNTN6 (rs9878022 [A]; OR = 3.749) and in CNTNAP2 (rs7804520 [G]; OR = 2.437) was found more frequently than would be expected under random segregation, albeit this association was not statistically significant. The latter finding is consistent with a polygenic disease model in which multiple mutagenic mechanisms, operating concomitantly, elicit the ASD phenotype. Altogether, this study corroborates the possible involvement of contactins in ASD, which has been indicated by earlier studies of CNVs.
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