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. 2019 Jun 4;9:8254. doi: 10.1038/s41598-019-44765-4

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© The Author(s) 2019

Open Access 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/.

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Twelve overlapping genes were identified in the male SALS twins DMPs and DEGs. (A) While 506 genes were identified as having multiple probes with a difference in β-methylation (≥0.25) between the ALS-discordant male SALS twins, only 123 of these genes were present in the matching RNA-Seq data. 642 of 750 genes identified as differentially expressed were present in the matching DNA methylation data. Twelve of these genes were both differentially expressed and differentially methylated (C11orf49, CD8A, COL7A1, EOMES, GATA6, GZMM, HOXA4, KANK3, OLIG2, QPRT, SMPD3, SNED1). (B) On the HumanMethylation 450K beadchip, multiple CpG probes are annotated to each gene. Methylation of all probes annotated to each of the twelve differentially expressed and differentially methylated genes shows strong consistency within each co-twin. Distance from the transcription start site in base pairs is shown on the x axis. Multiple data points per person at each probe indicate longitudinal sampling. Duplicate collections within a time point are shown as the mean with the standard deviation indicated by a line. (C) Longitudinal expression of the 12 shared genes, (C11orf49, CD8A, COL7A1, EOMES, GATA6, GZMM, HOXA4, KANK3, OLIG2, QPRT, SMPD3, SNED1), is consistently different between ALS discordant male SALS co-twins over time.