LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes
4
Issued Date
2022-12-01
Resource Type
eISSN
20452322
Scopus ID
2-s2.0-85136069460
Pubmed ID
35978033
Journal Title
Scientific Reports
Volume
12
Issue
1
Rights Holder(s)
SCOPUS
Bibliographic Citation
Scientific Reports Vol.12 No.1 (2022)
Suggested Citation
Saeliw T., Permpoon T., Iadsee N., Tencomnao T., Hu V.W., Sarachana T., Green D., Sae-Lee C. LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes. Scientific Reports Vol.12 No.1 (2022). doi:10.1038/s41598-022-18232-6 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/86400
Title
LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes
Other Contributor(s)
Abstract
Long interspersed nucleotide element-1 (LINE-1) and Alu elements are retrotransposons whose abilities cause abnormal gene expression and genomic instability. Several studies have focused on DNA methylation profiling of gene regions, but the locus-specific methylation of LINE-1 and Alu elements has not been identified in autism spectrum disorder (ASD). Here we interrogated locus- and family-specific methylation profiles of LINE-1 and Alu elements in ASD whole blood using publicly-available Illumina Infinium 450 K methylation datasets from heterogeneous ASD and ASD variants (Chromodomain Helicase DNA-binding 8 (CHD8) and 16p11.2del). Total DNA methylation of repetitive elements were notably hypomethylated exclusively in ASD with CHD8 variants. Methylation alteration in a family-specific manner including L1P, L1H, HAL, AluJ, and AluS families were observed in the heterogeneous ASD and ASD with CHD8 variants. Moreover, LINE-1 and Alu methylation within target genes is inversely related to the expression level in each ASD variant. The DNA methylation signatures of the LINE-1 and Alu elements in ASD whole blood, as well as their associations with the expression of ASD-related genes, have been identified. If confirmed in future larger studies, these findings may contribute to the identification of epigenomic biomarkers of ASD.