- Title
- Epigenetic differences at the HTR2A locus in progressive multiple sclerosis patients
- Creator
- Maltby, Vicki E.; Lea, Rodney A.; Burnard, Sean; Xavier, Alexandre; Van Cao, Thao; White, Nicole; Kennedy, Daniel; Groen, Kira; Sanders, Katherine A.; Seeto, Rebecca; Bray, Samara; Gresle, Melissa; Laverick, Louise; Butzkueven, Helmut; Scott, Rodney J.; Lechner-Scott, Jeannette
- Relation
- Scientific Reports Vol. 10, Issue 1, no. 22217
- Publisher Link
- http://dx.doi.org/10.1038/s41598-020-78809-x
- Publisher
- Nature Publishing Group
- Resource Type
- journal article
- Date
- 2020
- Description
- The pathology of progressive multiple sclerosis (MS) is poorly understood. We have previously assessed DNA methylation in the CD4+ T cells of relapsing–remitting (RR) MS patients compared to healthy controls and identified differentially methylated regions (DMRs) in HLA-DRB1 and RNF39. This study aimed to investigate the DNA methylation profiles of the CD4+ T cells of progressive MS patients. DNA methylation was measured in two separate case/control cohorts using the Illumina 450K/EPIC arrays and data was analysed with the Chip Analysis Methylation Pipeline (ChAMP). Single nucleotide polymorphisms (SNPs) were assessed using the Illumina Human OmniExpress24 arrays and analysed using PLINK. Expression was assessed using the Illumina HT12 array and analysed in R using a combination of Limma and Illuminaio. We identified three DMRs at HTR2A, SLC17A9 and HDAC4 that were consistent across both cohorts. The DMR at HTR2A is located within the bounds of a haplotype block; however, the DMR remained significant after accounting for SNPs in the region. No expression changes were detected in any DMRs. HTR2A is differentially methylated in progressive MS independent of genotype. This differential methylation is not evident in RRMS, making it a potential biomarker of progressive disease.
- Subject
- medical research; multiple sclerosis; epigenetic differences; HTR2A; Sustainable Development Goals; SDG 7
- Identifier
- http://hdl.handle.net/1959.13/1428450
- Identifier
- uon:38628
- Identifier
- ISSN:2045-2322
- Rights
- 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.
- Language
- eng
- Full Text
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