The effect of TOMM40 poly-T repeat lengths on age of onset and cerebrospinal fluid biomarkers in Finnish Alzheimer's disease patients

Neurodegener Dis. 2014;14(4):204-8. doi: 10.1159/000367994. Epub 2014 Dec 4.

Abstract

Background: Poly-T repeat lengths of rs10524523 in TOMM40 together with APOE polymorphism have been reported to affect the risk of late-onset Alzheimer's disease (LOAD) and the age of onset (AOO).

Objective: To explore whether the AOO and cerebrospinal fluid biomarkers Aβ42, total tau and phosphorylated tau are associated with different repeat lengths.

Methods: We conducted both the fragment and sequencing analysis of rs10524523 in 336 LOAD patients with a known APOE genotype.

Results: AOO and Aβ42 levels associated significantly with certain poly-T repeat lengths of rs10524523 in LOAD patients encompassing APOE 34/44 genotype.

Conclusion: We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependent association in LOAD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / cerebrospinal fluid*
  • Alzheimer Disease / genetics*
  • Amyloid beta-Peptides / cerebrospinal fluid*
  • Biomarkers
  • Female
  • Finland
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Peptide Fragments / cerebrospinal fluid*
  • Poly T / genetics*
  • tau Proteins / cerebrospinal fluid*

Substances

  • Amyloid beta-Peptides
  • Biomarkers
  • MAPT protein, human
  • Membrane Transport Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Peptide Fragments
  • TOMM40 protein, human
  • amyloid beta-protein (1-42)
  • tau Proteins
  • Poly T