Blood DNA methylation as a potential biomarker of dementia: A systematic review

Peter D. Fransquet, Paul Lacaze, Richard Saffery, John McNeil, Robyn Woods, Joanne Ryan

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20 Citations (Scopus)


Dementia is a major public health issue with rising prevalence rates, but many individuals remain undiagnosed. Accurate and timely diagnosis is key for the optimal targeting of interventions. A noninvasive, easily measurable peripheral biomarker would have greatest utility in population-wide diagnostic screening. Epigenetics, including DNA methylation, is implicated in dementia; however, it is unclear whether epigenetic changes can be detected in peripheral tissue. This study aimed to systematically review the evidence for an association between dementia and peripheral DNA methylation. Forty-eight studies that measured DNA methylation in peripheral blood were identified, and 67% reported significant associations with dementia. However, most studies were underpowered and limited by their case-control design. We emphasize the need for future longitudinal studies on large well-characterized populations, measuring epigenetic patterns in asymptomatic individuals. A biomarker detectable in the preclinical stages of the disease would have the greatest utility in future intervention and treatment trials.

Original languageEnglish
Pages (from-to)81-103
Number of pages18
JournalAlzheimer's and Dementia
Issue number1
Publication statusPublished - Jan 2018


  • Alzheimer's disease
  • Biomarker
  • Blood
  • Dementia
  • DNA methylation
  • Epigenetics
  • Peripheral

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