An epigenetic biomarker for adult high-functioning autism spectrum disorder

• Kimura, Ryo

  Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University

• Nakata, Masatoshi

  Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University

• Funabiki, Yasuko

  Department of Cognitive and Behavioral Science, Graduate School of Human and Environmental Studies, Kyoto University・Department of Psychiatry, Graduate School of Medicine, Kyoto University

• Suzuki, Shiho

  Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University

• Awaya, Tomonari

  Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University

• Murai, Toshiya

  Department of Psychiatry, Graduate School of Medicine, Kyoto University

• Hagiwara, Masatoshi

  Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University

Abstract

Increasing evidence suggests that epigenetic mechanisms play a role in the etiology of autism spectrum disorder (ASD). To date, several studies have attempted to identify epigenetic biomarkers for ASD. However, reliable markers remain to be established and most of these studies have focused on pediatric patients with ASD. In this study, we sought to find an epigenetic DNA methylation biomarker from peripheral blood for adult patients with high-functioning ASD. DNA methylation profiles were analyzed using the Illumina 450 K methylation array. To identify robust candidate markers, we employed two types of machine-learning algorithms for marker selection. We identified a potential marker (cg20793532) for which is the AUC value was 0.79. Notably, cg20793532 was annotated to the PPP2R2C gene, which was hypermethylated and down-regulated in blood from ASD patients compared to that in the controls. Although requiring careful interpretation, this pilot study seems to provide a potential blood biomarker for identifying individuals with high-functioning ASD.

Journal

• Scientific Reports

  Scientific Reports 9 13662-, 2019-09-20

  Springer Nature

Keywords

• Diagnostic markers
• Genetics research
• Translational research

Details

• CRID: 1050282813493925632
• NII Article ID: 120006726165
• ISSN: 20452322
• DOI: 10.1038/s41598-019-50250-9
• HANDLE: 2433/244149
• Web Site: https://www.nature.com/articles/s41598-019-50250-9.pdf
• Web Site: https://www.nature.com/articles/s41598-019-50250-9
• Text Lang: en
• Article Type: journal article
• Data Source:
  • IRDB
  • Crossref
  • CiNii Articles
  • KAKEN