An epigenetic biomarker for adult high-functioning autism spectrum disorder.
Ryo KimuraMasatoshi NakataYasuko FunabikiShiho SuzukiTomonari AwayaToshiya MuraiMasatoshi HagiwaraPublished in: Scientific reports (2019)
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.
Keyphrases
- autism spectrum disorder
- dna methylation
- genome wide
- attention deficit hyperactivity disorder
- machine learning
- gene expression
- intellectual disability
- peripheral blood
- copy number
- end stage renal disease
- chronic kidney disease
- artificial intelligence
- transcription factor
- case control
- human health
- risk assessment
- big data
- patient reported
- working memory