Neuro-degenerative diseases · 2014
The effect of TOMM40 poly-T repeat lengths on age of onset and cerebrospinal fluid biomarkers in Finnish Alzheimer's disease patients.
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Helisalmi Seppo, Hall Anette, Meriläinen Esa-Heikki, Väisänen Viljami, Koivisto Anne Maria, Herukka Sanna-Kaisa, Laitinen Marjo, Soininen Hilkka, Hiltunen Mikko
Аннотация
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.
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.