Peripheral blood DNA methylation differences in twin pairs discordant for Alzheimer's disease

Mikko Konki, Maia Malonzo, Ida K. Karlsson, Noora Lindgren, Bishwa Ghimire, Johannes Smolander, Noora M. Scheinin, Miina Ollikainen, Asta Laiho, Laura L. Elo, Tapio Lonnberg, Matias Roytta, Nancy L. Pedersen, Jaakko Kaprio, Harri Lahdesmaki, Juha O. Rinne, Riikka J. Lund*

*Corresponding author for this work

Research output: Contribution to journalArticleScientificpeer-review

2 Citations (Scopus)
46 Downloads (Pure)


Background Alzheimer's disease results from a neurodegenerative process that starts well before the diagnosis can be made. New prognostic or diagnostic markers enabling early intervention into the disease process would be highly valuable. Environmental and lifestyle factors largely modulate the disease risk and may influence the pathogenesis through epigenetic mechanisms, such as DNA methylation. As environmental and lifestyle factors may affect multiple tissues of the body, we hypothesized that the disease-associated DNA methylation signatures are detectable in the peripheral blood of discordant twin pairs. Results Comparison of 23 disease discordant Finnish twin pairs with reduced representation bisulfite sequencing revealed peripheral blood DNA methylation differences in 11 genomic regions with at least 15.0% median methylation difference and FDR adjusted p value

Original languageEnglish
Article number130
Number of pages12
JournalClinical epigenetics
Issue number1
Publication statusPublished - 2 Sep 2019
MoE publication typeA1 Journal article-refereed


  • Alzheimer's disease
  • DNA methylome
  • Hippocampus
  • Peripheral blood
  • Twin pair
  • ADAR3
  • GENE
  • ANK1
  • PET

Cite this

Konki, M., Malonzo, M., Karlsson, I. K., Lindgren, N., Ghimire, B., Smolander, J., Scheinin, N. M., Ollikainen, M., Laiho, A., Elo, L. L., Lonnberg, T., Roytta, M., Pedersen, N. L., Kaprio, J., Lahdesmaki, H., Rinne, J. O., & Lund, R. J. (2019). Peripheral blood DNA methylation differences in twin pairs discordant for Alzheimer's disease. Clinical epigenetics, 11(1), [130].