Original Paper

Neurochemical Research

, Volume 36, Issue 6, pp 1124-1128

TOMM40 poly-T Variants and Cerebrospinal Fluid Amyloid Beta Levels in the Elderly

  • Nunzio PomaraAffiliated withNathan S. Kline Institute for Psychiatric ResearchNew York University School of Medicine Email author 
  • , Davide BrunoAffiliated withNathan S. Kline Institute for Psychiatric ResearchNew York University School of Medicine
  • , Jay J. NierenbergAffiliated withNathan S. Kline Institute for Psychiatric ResearchNew York University School of Medicine
  • , John J. SidtisAffiliated withNathan S. Kline Institute for Psychiatric ResearchNew York University School of Medicine
  • , Frank T. MartiniukAffiliated withNew York University School of Medicine
  • , Pankaj D. MehtaAffiliated withNYS Institute for Basic Research
  • , Henrik ZetterbergAffiliated withNeurochemistry Lab, Sahlgrenska University Hospital
  • , Kaj BlennowAffiliated withNeurochemistry Lab, Sahlgrenska University Hospital

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Abstract

A variable poly-T polymorphism in the TOMM40 gene, which is in linkage disequilibrium with APOE, was recently implicated with increased risk and earlier onset age for late-onset Alzheimer’s disease in APOE ε3 carriers. To elucidate potential neurobiological mechanisms underlying this association, we compared the effect of TOMM40 poly-T variants to the effect of APOE, an established LOAD-risk modulator, on cerebrospinal fluid (CSF) amyloid beta (Aβ) and tau levels, in cognitively intact elderly subjects. APOE ε4 carriers showed significant reductions in Aβ 1-42 levels compared to non-ε4 carriers, but no differences were detected across TOMM40 variants. Neither Aβ 1-40 nor tau levels were affected by APOE or TOMM40.

Keywords

TOMM40 poly-T APOE Cerebrospinal fluid Amyloid beta T tau P tau Alzheimer’s disease