An epigenetic biomarker for adult high-functioning autism spectrum disorder

被引:22
|
作者
Kimura, Ryo [1 ]
Nakata, Masatoshi [1 ]
Funabiki, Yasuko [2 ,3 ]
Suzuki, Shiho [1 ]
Awaya, Tomonari [1 ]
Murai, Toshiya [3 ]
Hagiwara, Masatoshi [1 ]
机构
[1] Kyoto Univ, Grad Sch Med, Dept Anat & Dev Biol, Kyoto 6068501, Japan
[2] Kyoto Univ, Grad Sch Human & Environm Studies, Dept Cognit & Behav Sci, Kyoto 6068501, Japan
[3] Kyoto Univ, Grad Sch Med, Dept Psychiat, Kyoto 6068507, Japan
关键词
METHYLATION; EXPRESSION; PPP2R2C;
D O I
10.1038/s41598-019-50250-9
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
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页数:7
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