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A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability
Sub-threshold autistic traits are common in the general population. Children with sub-threshold autistic traits have difficulties with social adaptation. Contactin-associated protein-like 2 (CNTNAP2) is associated with the development of Autism spectrum disorder (ASD) and the single-nucleotide polym...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Public Library of Science
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8668106/ https://www.ncbi.nlm.nih.gov/pubmed/34898614 http://dx.doi.org/10.1371/journal.pone.0260548 |
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author | Shiota, Yuka Hirosawa, Tetsu Yoshimura, Yuko Tanaka, Sanae Hasegawa, Chiaki Iwasaki, Sumie An, Kyung-min Soma, Daiki Sano, Masuhiko Yokoyama, Shigeru Kikuchi, Mitsuru |
author_facet | Shiota, Yuka Hirosawa, Tetsu Yoshimura, Yuko Tanaka, Sanae Hasegawa, Chiaki Iwasaki, Sumie An, Kyung-min Soma, Daiki Sano, Masuhiko Yokoyama, Shigeru Kikuchi, Mitsuru |
author_sort | Shiota, Yuka |
collection | PubMed |
description | Sub-threshold autistic traits are common in the general population. Children with sub-threshold autistic traits have difficulties with social adaptation. Contactin-associated protein-like 2 (CNTNAP2) is associated with the development of Autism spectrum disorder (ASD) and the single-nucleotide polymorphism rs2710102 (G/A) of CNTNAP2 is suggested to contribute to sub-threshold social impairments and intellectual disabilities. We recruited 67 children with Autistic disorder (AD) (49 boys, 18 girls, aged 38–98 months) and 57 typically developing (TD) children (34 boys, 23 girls, aged 53–90 months). We assessed the participants’ intelligence and social reciprocity using the Kaufman Assessment Battery for Children (K-ABC) and the Social Responsiveness Scale (SRS), respectively. Genomic DNA was extracted from the buccal mucosa and genotyped for rs2710102. A chi-square test revealed a significant association between genotype and group [χ(2)(2) = 6.56, p = 0.038]. When a co-dominant model was assumed, the results from linear regression models demonstrated that TD children with A-carriers (AA + AG) presented higher SRS T-scores [t(55) = 2.11, p = 0.039] and lower simultaneous processing scale scores of K-ABC [t(55) = -2.19, p = 0.032] than those with GG homozygotes. These associations were not significant in children with ASD. TD children with the rs2710102 A-allele may have more sub-threshold autistic traits than those with GG homozygotes, reflected in higher SRS scores and lower simultaneous processing scale scores. These results support the use of genetic evidence to detect sub-threshold autistic traits. |
format | Online Article Text |
id | pubmed-8668106 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-86681062021-12-14 A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability Shiota, Yuka Hirosawa, Tetsu Yoshimura, Yuko Tanaka, Sanae Hasegawa, Chiaki Iwasaki, Sumie An, Kyung-min Soma, Daiki Sano, Masuhiko Yokoyama, Shigeru Kikuchi, Mitsuru PLoS One Research Article Sub-threshold autistic traits are common in the general population. Children with sub-threshold autistic traits have difficulties with social adaptation. Contactin-associated protein-like 2 (CNTNAP2) is associated with the development of Autism spectrum disorder (ASD) and the single-nucleotide polymorphism rs2710102 (G/A) of CNTNAP2 is suggested to contribute to sub-threshold social impairments and intellectual disabilities. We recruited 67 children with Autistic disorder (AD) (49 boys, 18 girls, aged 38–98 months) and 57 typically developing (TD) children (34 boys, 23 girls, aged 53–90 months). We assessed the participants’ intelligence and social reciprocity using the Kaufman Assessment Battery for Children (K-ABC) and the Social Responsiveness Scale (SRS), respectively. Genomic DNA was extracted from the buccal mucosa and genotyped for rs2710102. A chi-square test revealed a significant association between genotype and group [χ(2)(2) = 6.56, p = 0.038]. When a co-dominant model was assumed, the results from linear regression models demonstrated that TD children with A-carriers (AA + AG) presented higher SRS T-scores [t(55) = 2.11, p = 0.039] and lower simultaneous processing scale scores of K-ABC [t(55) = -2.19, p = 0.032] than those with GG homozygotes. These associations were not significant in children with ASD. TD children with the rs2710102 A-allele may have more sub-threshold autistic traits than those with GG homozygotes, reflected in higher SRS scores and lower simultaneous processing scale scores. These results support the use of genetic evidence to detect sub-threshold autistic traits. Public Library of Science 2021-12-13 /pmc/articles/PMC8668106/ /pubmed/34898614 http://dx.doi.org/10.1371/journal.pone.0260548 Text en © 2021 Shiota et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Shiota, Yuka Hirosawa, Tetsu Yoshimura, Yuko Tanaka, Sanae Hasegawa, Chiaki Iwasaki, Sumie An, Kyung-min Soma, Daiki Sano, Masuhiko Yokoyama, Shigeru Kikuchi, Mitsuru A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability |
title | A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability |
title_full | A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability |
title_fullStr | A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability |
title_full_unstemmed | A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability |
title_short | A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability |
title_sort | common variant of cntnap2 is associated with sub-threshold autistic traits and intellectual disability |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8668106/ https://www.ncbi.nlm.nih.gov/pubmed/34898614 http://dx.doi.org/10.1371/journal.pone.0260548 |
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