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Journal of Neural Transmission
Article . 2015 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
https://dx.doi.org/10.5167/uzh...
Other literature type . 2016
Data sources: Datacite
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CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches

Authors: Werling, Anna Maria; Bobrowski, Elise; Taurines, Regina; Gundelfinger, Ronnie; Romanos, Marcel; Grünblatt, Edna; Walitza, Susanne;

CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches

Abstract

The Contactin Associated Protein-like 2 (CNTNAP2) gene has been discussed to be associated with different symptoms of autism spectrum disorders (ASDs) and other neurodevelopmental disorders. We aimed to elucidate the genetic association of CNTNAP2 within high functioning ASD (HFA), focusing on autism specific symptoms and reducing intelligence related factors. Furthermore, we compared our findings conducting a meta-analysis in patients with ASD and HFA only. A case-control association study was performed for HFA (HFA, n = 105; controls, n = 133). Moreover, we performed a family-based association study (DFAM) analysis (HFA, n = 44; siblings, n = 57). Individuals were genotyped for the two most frequently reported single nucleotide polymorphisms (SNPs) in the CNTNAP2 gene (rs2710102, rs7794745). Furthermore, a meta-analysis using the MIX2 software integrated our results with previously published data. A significant association for the carriers of the T-allele of the rs7794745 with HFA was found in the case-control sample [OR = 1.547; (95 % CI 1.056-2.266); p = 0.025]. No association could be found by DFAM with any of the CNTNAP2 SNPs with HFA. The meta-analysis of both SNPs did not show a significant association with either ASD or with HFA. Overall, including case-control, sibs, and meta-analysis, we could not detect any significant association with the CNTNAP2 gene and HFA. Our results point in the direction that CNTNAP2 may not play a major role in HFA, but rather seems to have a significance in neurodevelopmental disorders or in individuals displaying intellectual delays.

Keywords

Male, Adolescent, Genotype, 11558 Neuroscience Center Zurich, 610 Medicine & health, Nerve Tissue Proteins, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, 2738 Psychiatry and Mental Health, 11554 Zurich Center for Integrative Human Physiology (ZIHP), 10058 Child and Adolescent Psychiatry, Humans, Genetic Predisposition to Disease, Autistic Disorder, Child, Siblings, Membrane Proteins, 2728 Neurology (clinical), 2808 Neurology, Case-Control Studies, Child, Preschool, Female, 2803 Biological Psychiatry

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    17
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    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
17
Top 10%
Average
Top 10%
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