Common Variants in ABI3 Influence Cerebrospinal Fluid Total Tau Levels and Cognitive Decline in Progressive Mild Cognitive Impairment Patients

J Alzheimers Dis. 2019;70(1):17-23. doi: 10.3233/JAD-190153.

Abstract

A potential role for ABI3 gene has been suggested in the risk of Alzheimer's disease (AD), but the detailed mechanism before typical AD onset was unclear. In this study, we investigated the associations of ABI3 common variants with cerebrospinal fluid biomarkers and cognitive function scores among non-demented elderly from the ADNI database. We found that, in the progressive mild cognitive impairment group, rs5978930 was associated with total tau levels and rs16947151 was associated with cognitive function scores at baseline and over time, suggesting that ABI3 variants may be associated with cognitive decline and may influence AD onset through tau pathology.

Keywords: ABI3; biomarkers; mild cognitive impairment; total tau; variant.

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

  • Adaptor Proteins, Signal Transducing / genetics*
  • Aged
  • Aged, 80 and over
  • Biomarkers / cerebrospinal fluid
  • Cognition / physiology*
  • Cognitive Dysfunction / cerebrospinal fluid
  • Cognitive Dysfunction / genetics*
  • Cognitive Dysfunction / psychology
  • Disease Progression
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Neuropsychological Tests
  • Polymorphism, Single Nucleotide*
  • tau Proteins / cerebrospinal fluid*

Substances

  • ABI3 protein, human
  • Adaptor Proteins, Signal Transducing
  • Biomarkers
  • tau Proteins