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TOMM40 poly-T variants and cerebrospinal fluid amyloid beta levels in the elderly.


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 ?3 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 (A?) and tau levels, in cognitively intact elderly subjects. APOE ?4 carriers showed significant reductions in A? 1-42 levels compared to non-?4 carriers, but no differences were detected across TOMM40 variants. Neither A? 1-40 nor tau levels were affected by APOE or TOMM40.

SUBMITTER: Pomara N 

PROVIDER: S-EPMC4550701 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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TOMM40 poly-T variants and cerebrospinal fluid amyloid beta levels in the elderly.

Pomara Nunzio N   Bruno Davide D   Nierenberg Jay J JJ   Sidtis John J JJ   Martiniuk Frank T FT   Mehta Pankaj D PD   Zetterberg Henrik H   Blennow Kaj K  

Neurochemical research 20110401 6


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 s  ...[more]

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