Elucidating novel dysfunctional pathways in Alzheimer's disease by integrating loci identified in genetic and epigenetic studies

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Abstract

Alzheimer's disease is a complex neurodegenerative disorder that affected 5.2 million people in America in 2014 (Association, A.S., 2014). A large number of genome-wide association studies (GWAS) have been performed, which have been supplemented more recently by the first epigenome-wide association studies (EWAS), leading to the identification of a number of novel loci altered in disease. Twin studies have shown monozygotic twin discordance for Alzheimer's disease (Mastroeni et al., 2009), leading to the conclusion that a combination of genetic and epigenetic mechanisms are likely to be involved in disease etiology (Lunnon & Mill, 2013). This review focuses on identifying overlapping pathways between published GWAS and EWAS studies, highlighting dysfunctional synaptic, lipid metabolism, plasma membrane/cytoskeleton, mitochondrial and immune cell activation pathways. Identifying common pathways altered in genetic and epigenetic studies will aid our understanding of disease mechanisms and identify potential novel targets for pharmacological intervention.
Original languageEnglish
JournalNeuroepigenetics
Early online date14 May 2016
DOIs
Publication statusE-pub ahead of print - 14 May 2016

Keywords

  • Alzheimer's disease
  • AD
  • DNA methylation
  • GWAS
  • EWAS
  • Exome sequencing

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