title: The effect of TOMM40 poly-T repeat lengths on age of onset and cerebrospinal fluid biomarkers in Finnish Alzheimer's disease patients.
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.
  
  
  CONCLUSIONS
  We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependent association in LOAD.
authors.affiliation: Institute of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland.
authors.forename: Seppo
authors.initials: S
authors.lastname: Helisalmi
authors.forename: Anette
authors.initials: A
authors.lastname: Hall
authors.forename: Esa-Heikki
authors.initials: EH
authors.lastname: Meriläinen
authors.forename: Viljami
authors.initials: V
authors.lastname: Väisänen
authors.forename: Anne Maria
authors.initials: AM
authors.lastname: Koivisto
authors.forename: Sanna-Kaisa
authors.initials: SK
authors.lastname: Herukka
authors.forename: Marjo
authors.initials: M
authors.lastname: Laitinen
authors.forename: Hilkka
authors.initials: H
authors.lastname: Soininen
authors.forename: Mikko
authors.initials: M
authors.lastname: Hiltunen
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid* / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid*; D015415:Biomarkers; D005260:Female; D005387:Finland; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D010446:Peptide Fragments / Q000134:cerebrospinal fluid*; D011071:Poly T / Q000235:genetics*; D016875:tau Proteins / Q000134:cerebrospinal fluid*
chemical_list: D016229:Amyloid beta-Peptides; D015415:Biomarkers; C054369:MAPT protein, human; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D010446:Peptide Fragments; C400783:TOMM40 protein, human; C075222:amyloid beta-protein (1-42); D016875:tau Proteins; D011071:Poly T