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ORIGINAL RESEARCH article

Front. Genet.
Sec. Behavioral and Psychiatric Genetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1352480
This article is part of the Research Topic Epigenetics and Neurodevelopment in Psychiatry View all 4 articles

Association of Genetic Variants with Autism Spectrum Disorder in Japanese Children Revealed by Targeted Sequencing

Provisionally accepted
Yuka Shiota Yuka Shiota 1,2*Tomoaki Nishiyama Tomoaki Nishiyama 3Shigeru Yokoyama Shigeru Yokoyama 2*Yuko YOSHIMURA Yuko YOSHIMURA 4Chiaki Hasegawa Chiaki Hasegawa 2Sanae Tanaka Sanae Tanaka 2Sumie Iwasaki Sumie Iwasaki 1Mitsuru Kikuchi Mitsuru Kikuchi 5
  • 1 Japan Society for the Promotion of Science (JSPS), Tokyo, Japan
  • 2 Research Center for Child Mental Development, Kanazawa University, Kanazawa, Ishikawa, Japan
  • 3 Research Center for Experimental Modeling of Human Disease, Kanazawa, Japan
  • 4 Institute of Human and Social Sciences, Kanazawa, Japan
  • 5 Department of Psychiatry and Neurobiology, Graduate School of Medical Science, Kanazawa University, Kanazawa, Ishikawa, Japan

The final, formatted version of the article will be published soon.

    Introduction: Autism spectrum disorders (ASD) represent a heterogeneous group of neurodevelopmental disorders with strong genetic predispositions. Although an increasing number of genetic variants have been implicated in the pathogenesis of ASD, little is known about the relationship between ASD-associated genetic variants and individual ASD traits. Therefore, we aimed to investigate these relationships. Methods: Here, we report a case-control association study of 32 Japanese children with ASD (mainly with high-functioning autism [HFA]) and 36 with typical development (TD). We explored previously established ASD-associated genes using a nextgeneration sequencing panel and determined the association between Social Responsiveness Scale (SRS) T-scores and intelligence quotient (IQ) scores. Results: In the genotype-phenotype analyses, 40 variants of 5 genes (SCN1A, SHANK3, DYRK1A, CADPS, and SCN2A) were associated with ASD/TD phenotypes. In particular, 10 SCN1A variants passed permutation filtering (false discovery rate <0.05). In the quantitative association analyses, 49 variants of 12 genes (CHD8,

    Keywords: Autism Spectrum Disorder, Genetic architecture, high-functioning autism, nextgeneration sequencing, Single-nucleotide polymorphism, Common Variant, Social Responsiveness Scale

    Received: 08 Dec 2023; Accepted: 04 Mar 2024.

    Copyright: © 2024 Shiota, Nishiyama, Yokoyama, YOSHIMURA, Hasegawa, Tanaka, Iwasaki and Kikuchi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Yuka Shiota, Japan Society for the Promotion of Science (JSPS), Tokyo, Japan
    Shigeru Yokoyama, Research Center for Child Mental Development, Kanazawa University, Kanazawa, 920-8640, Ishikawa, Japan

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