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Title: An epigenetic biomarker for adult high-functioning autism spectrum disorder
Authors: Kimura, Ryo
Nakata, Masatoshi
Funabiki, Yasuko
Suzuki, Shiho
Awaya, Tomonari
Murai, Toshiya
Hagiwara, Masatoshi
Author's alias: 木村, 亮
中田, 昌利
船曳, 康子
粟屋, 智就
村井, 俊哉
萩原, 正敏
Keywords: Diagnostic markers
Genetics research
Translational research
Issue Date: 20-Sep-2019
Publisher: Springer Nature
Journal title: Scientific Reports
Volume: 9
Thesis number: 13662
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.
Rights: © Te Author(s) 2019. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
URI: http://hdl.handle.net/2433/244149
DOI(Published Version): 10.1038/s41598-019-50250-9
PubMed ID: 31541176
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