Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease

Nat Neurosci. 2014 Sep;17(9):1164-70. doi: 10.1038/nn.3782. Epub 2014 Aug 17.

Abstract

Alzheimer's disease (AD) is a chronic neurodegenerative disorder that is characterized by progressive neuropathology and cognitive decline. We performed a cross-tissue analysis of methylomic variation in AD using samples from four independent human post-mortem brain cohorts. We identified a differentially methylated region in the ankyrin 1 (ANK1) gene that was associated with neuropathology in the entorhinal cortex, a primary site of AD manifestation. This region was confirmed as being substantially hypermethylated in two other cortical regions (superior temporal gyrus and prefrontal cortex), but not in the cerebellum, a region largely protected from neurodegeneration in AD, or whole blood obtained pre-mortem from the same individuals. Neuropathology-associated ANK1 hypermethylation was subsequently confirmed in cortical samples from three independent brain cohorts. This study represents, to the best of our knowledge, the first epigenome-wide association study of AD employing a sequential replication design across multiple tissues and highlights the power of this approach for identifying methylomic variation associated with complex disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Ankyrins / genetics*
  • Cerebral Cortex / pathology
  • Cerebral Cortex / physiology*
  • DNA Methylation / genetics*
  • Entorhinal Cortex / pathology
  • Entorhinal Cortex / physiology
  • Epigenesis, Genetic / genetics
  • Female
  • Genome-Wide Association Study
  • Humans
  • Male
  • Middle Aged
  • Prefrontal Cortex / pathology
  • Prefrontal Cortex / physiology
  • Temporal Lobe / pathology
  • Temporal Lobe / physiology
  • Transcriptome

Substances

  • ANK1 protein, human
  • Ankyrins