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...
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Public Library of Science (PLoS)
2021-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0260548&type=printable |
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| author | Yuka Shiota Tetsu Hirosawa Yuko Yoshimura Sanae Tanaka Chiaki Hasegawa Sumie Iwasaki Kyung-Min An Daiki Soma Masuhiko Sano Shigeru Yokoyama Mitsuru Kikuchi |
| author_facet | Yuka Shiota Tetsu Hirosawa Yuko Yoshimura Sanae Tanaka Chiaki Hasegawa Sumie Iwasaki Kyung-Min An Daiki Soma Masuhiko Sano Shigeru Yokoyama Mitsuru Kikuchi |
| author_sort | Yuka Shiota |
| collection | DOAJ |
| 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 [χ2(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 | Article |
| id | doaj-art-e8907be0d214454dad12a2d794f76b65 |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-e8907be0d214454dad12a2d794f76b652025-08-20T02:01:04ZengPublic Library of Science (PLoS)PLoS ONE1932-62032021-01-011612e026054810.1371/journal.pone.0260548A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability.Yuka ShiotaTetsu HirosawaYuko YoshimuraSanae TanakaChiaki HasegawaSumie IwasakiKyung-Min AnDaiki SomaMasuhiko SanoShigeru YokoyamaMitsuru KikuchiSub-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 [χ2(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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0260548&type=printable |
| spellingShingle | Yuka Shiota Tetsu Hirosawa Yuko Yoshimura Sanae Tanaka Chiaki Hasegawa Sumie Iwasaki Kyung-Min An Daiki Soma Masuhiko Sano Shigeru Yokoyama Mitsuru Kikuchi A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability. PLoS ONE |
| 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 |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0260548&type=printable |
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