Relationship between genetic risk factors and markers for Alzheimer's disease pathology

Lyzel S. Elias-Sonnenschein*, Lars Bertram, Pieter Jelle Visser

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

22 Citations (Web of Science)


Alzheimer's disease (AD) is a neurodegenerative disorder characterized by neuritic plaques (main constituent: beta-amyloid [A beta]) and neurofibrillary tangles (hyperphosphorylated tau protein) in the brain. Abnormalities in A beta and tau can be measured upon neuropathological examination, in cerebrospinal fluid or by PET. Etiologically, a growing body of evidence suggests that susceptibility to AD is genetically controlled. However, the precise nature of the underlying risk genes and their relation to AD biomarkers remains largely elusive. To this end, we performed a qualitative review of 17 studies (covering 47 polymorphisms in 26 genes) and investigated the potential relation between the most compelling AD risk genes and markers for A beta and tau in cerebrospinal fluid, PET imaging and neuropathological examination. Of all covered genes, only APOE and PICALM showed consistent effects on A beta but not on tau, while no obvious effects were observed for CLU, CR1, ACE, SORL and MAPT.
Original languageEnglish
Pages (from-to)477-495
JournalBiomarkers in Medicine
Issue number4
Publication statusPublished - Aug 2012


  • AlzGene
  • Alzheimer
  • amyloid
  • biomarker
  • CSF
  • genetics
  • GWAS
  • pathology
  • SNP
  • tau

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