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Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay

AIM: The receptive language ability of individuals with autism spectrum disorder (ASD) seems to lag behind expressive language ability. Several autism‐related genes may influence this developmental delay. Polymorphism of one such gene, namely, the contactin‐associated protein‐like 2 gene (CNTNAP2),...

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Autores principales: Shiota, Yuka, Hirosawa, Tetsu, Yoshimura, Yuko, Tanaka, Sanae, Hasegawa, Chiaki, Iwasaki, Sumie, Sano, Masuhiko, An, Kyung‐min, Yokoyama, Shigeru, Kikuchi, Mitsuru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515703/
https://www.ncbi.nlm.nih.gov/pubmed/35733350
http://dx.doi.org/10.1002/npr2.12267
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author Shiota, Yuka
Hirosawa, Tetsu
Yoshimura, Yuko
Tanaka, Sanae
Hasegawa, Chiaki
Iwasaki, Sumie
Sano, Masuhiko
An, Kyung‐min
Yokoyama, Shigeru
Kikuchi, Mitsuru
author_facet Shiota, Yuka
Hirosawa, Tetsu
Yoshimura, Yuko
Tanaka, Sanae
Hasegawa, Chiaki
Iwasaki, Sumie
Sano, Masuhiko
An, Kyung‐min
Yokoyama, Shigeru
Kikuchi, Mitsuru
author_sort Shiota, Yuka
collection PubMed
description AIM: The receptive language ability of individuals with autism spectrum disorder (ASD) seems to lag behind expressive language ability. Several autism‐related genes may influence this developmental delay. Polymorphism of one such gene, namely, the contactin‐associated protein‐like 2 gene (CNTNAP2), affects receptive language in individuals with language delay. However, the association between CNTNAP2 polymorphism and receptive language in individuals with no language delay remains unclear. METHODS: We included 59 children with ASD and 57 children with typical development in this study and investigated this association using coarse‐grained exact matching. RESULTS: We present the first evidence of an association between CNTNAP2 rs2710102 (A‐allele carrier) and reduced receptive language ability in children with ASD whose language development was not delayed. Similarly, among children with typical development, A‐allele carriers had lower receptive language ability, but the difference was non‐significant. CONCLUSIONS: It is possible that the effect of rs2710102 on receptive language ability is larger in the presence of autism‐related genes. Consequently, we speculate that the effect of rs2710102 on receptive language ability would be exerted in combination with other genes. These findings provide new insights into the genetic interactions between mutations associated with common language disorders and ASD and identify molecular mechanisms and risk alleles that contribute to receptive vocabulary. These findings also provide practical guidance in terms of providing candidate genetic markers that may provide opportunities for targeted early intervention to stratify risk and improve prognosis for poor receptive language development in children with ASD.
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spelling pubmed-95157032022-10-05 Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay Shiota, Yuka Hirosawa, Tetsu Yoshimura, Yuko Tanaka, Sanae Hasegawa, Chiaki Iwasaki, Sumie Sano, Masuhiko An, Kyung‐min Yokoyama, Shigeru Kikuchi, Mitsuru Neuropsychopharmacol Rep Micro Reports AIM: The receptive language ability of individuals with autism spectrum disorder (ASD) seems to lag behind expressive language ability. Several autism‐related genes may influence this developmental delay. Polymorphism of one such gene, namely, the contactin‐associated protein‐like 2 gene (CNTNAP2), affects receptive language in individuals with language delay. However, the association between CNTNAP2 polymorphism and receptive language in individuals with no language delay remains unclear. METHODS: We included 59 children with ASD and 57 children with typical development in this study and investigated this association using coarse‐grained exact matching. RESULTS: We present the first evidence of an association between CNTNAP2 rs2710102 (A‐allele carrier) and reduced receptive language ability in children with ASD whose language development was not delayed. Similarly, among children with typical development, A‐allele carriers had lower receptive language ability, but the difference was non‐significant. CONCLUSIONS: It is possible that the effect of rs2710102 on receptive language ability is larger in the presence of autism‐related genes. Consequently, we speculate that the effect of rs2710102 on receptive language ability would be exerted in combination with other genes. These findings provide new insights into the genetic interactions between mutations associated with common language disorders and ASD and identify molecular mechanisms and risk alleles that contribute to receptive vocabulary. These findings also provide practical guidance in terms of providing candidate genetic markers that may provide opportunities for targeted early intervention to stratify risk and improve prognosis for poor receptive language development in children with ASD. John Wiley and Sons Inc. 2022-06-22 /pmc/articles/PMC9515703/ /pubmed/35733350 http://dx.doi.org/10.1002/npr2.12267 Text en © 2022 The Authors. Neuropsychopharmacology Reports published by John Wiley & Sons Australia, Ltd on behalf of The Japanese Society of Neuropsychopharmacology. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Micro Reports
Shiota, Yuka
Hirosawa, Tetsu
Yoshimura, Yuko
Tanaka, Sanae
Hasegawa, Chiaki
Iwasaki, Sumie
Sano, Masuhiko
An, Kyung‐min
Yokoyama, Shigeru
Kikuchi, Mitsuru
Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
title Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
title_full Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
title_fullStr Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
title_full_unstemmed Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
title_short Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
title_sort effect of cntnap2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
topic Micro Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515703/
https://www.ncbi.nlm.nih.gov/pubmed/35733350
http://dx.doi.org/10.1002/npr2.12267
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