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进行性多发性硬化症患者 HTR2A 基因座的表观遗传差异。

Epigenetic differences at the HTR2A locus in progressive multiple sclerosis patients.

机构信息

School of Medicine and Public Health, University of Newcastle, Callaghan, NSW, 2308, Australia.

Centre for Brain and Mental Health, Hunter Medical Research Institute, New Lambton Heights, NSW, 2305, Australia.

出版信息

Sci Rep. 2020 Dec 17;10(1):22217. doi: 10.1038/s41598-020-78809-x.

DOI:10.1038/s41598-020-78809-x
PMID:33335118
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7747721/
Abstract

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.

摘要

进行性多发性硬化症（MS）的病理学尚不清楚。我们之前已经评估了复发缓解型（RR）MS 患者与健康对照组相比 CD4 T 细胞中的 DNA 甲基化，并在 HLA-DRB1 和 RNF39 中鉴定了差异甲基化区域（DMR）。本研究旨在研究进展性 MS 患者 CD4 T 细胞的 DNA 甲基化谱。使用 Illumina 450K/EPIC 阵列在两个独立的病例/对照队列中测量 DNA 甲基化，并使用 Chip Analysis Methylation Pipeline（ChAMP）进行数据分析。使用 Illumina Human OmniExpress24 阵列评估单核苷酸多态性（SNP），并使用 PLINK 进行分析。使用 Illumina HT12 阵列评估表达，并在 R 中使用 Limma 和 Illuminaio 的组合进行分析。我们在两个队列中都发现了三个位于 HTR2A、SLC17A9 和 HDAC4 的 DMR。HTR2A 中的 DMR 位于单倍型块的范围内;然而，在考虑该区域的 SNP 后，DMR 仍然显著。在任何 DMR 中都未检测到表达变化。HTR2A 在进行性 MS 中存在与基因型无关的差异甲基化。这种差异甲基化在 RRMS 中并不明显，使其成为进行性疾病的潜在生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77a8/7747721/47c6a247aabc/41598_2020_78809_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77a8/7747721/5c0c1cc20f1d/41598_2020_78809_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77a8/7747721/d3d40c8bef2e/41598_2020_78809_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77a8/7747721/47c6a247aabc/41598_2020_78809_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77a8/7747721/5c0c1cc20f1d/41598_2020_78809_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77a8/7747721/d3d40c8bef2e/41598_2020_78809_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77a8/7747721/47c6a247aabc/41598_2020_78809_Fig3_HTML.jpg

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