DNA methylation signatures of monozygotic twins clinically discordant for multiple sclerosis

Nat Commun. 2019 May 7;10(1):2094. doi: 10.1038/s41467-019-09984-3.

Abstract

Multiple sclerosis (MS) is an inflammatory, demyelinating disease of the central nervous system with a modest concordance rate in monozygotic twins, which strongly argues for involvement of epigenetic factors. We observe highly similar peripheral blood mononuclear cell-based methylomes in 45 MS-discordant monozygotic twins. Nevertheless, we identify seven MS-associated differentially methylated positions (DMPs) of which we validate two, including a region in the TMEM232 promoter and ZBTB16 enhancer. In CD4 + T cells we find an MS-associated differentially methylated region in FIRRE. Additionally, 45 regions show large methylation differences in individual pairs, but they do not clearly associate with MS. Furthermore, we present epigenetic biomarkers for current interferon-beta treatment, and extensive validation shows that the ZBTB16 DMP is a signature for prior glucocorticoid treatment. Taken together, this study represents an important reference for epigenomic MS studies, identifies new candidate epigenetic markers, and highlights treatment effects and genetic background as major confounders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biomarkers
  • DNA Methylation / genetics*
  • Diseases in Twins / blood
  • Diseases in Twins / genetics*
  • Enhancer Elements, Genetic / genetics
  • Epigenesis, Genetic*
  • Epigenomics / methods
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Leukocytes, Mononuclear
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Multiple Sclerosis / blood
  • Multiple Sclerosis / genetics*
  • Promoter Regions, Genetic / genetics
  • Promyelocytic Leukemia Zinc Finger Protein / genetics
  • RNA, Long Noncoding / genetics
  • Twins, Monozygotic
  • Young Adult

Substances

  • Biomarkers
  • Membrane Proteins
  • Promyelocytic Leukemia Zinc Finger Protein
  • RNA, Long Noncoding
  • TMEM232 protein, human
  • long noncoding RNA Firre, human
  • ZBTB16 protein, human