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The effect of TOMM40 poly-T repeat lengths on age of onset and cerebrospinal fluid biomarkers in Finnish Alzheimer's disease patients.
Helisalmi, Seppo; Hall, Anette; Meriläinen, Esa-Heikki; Väisänen, Viljami; Koivisto, Anne Maria; Herukka, Sanna-Kaisa; Laitinen, Marjo; Soininen, Hilkka; Hiltunen, Mikko.
Affiliation
  • Helisalmi S; Institute of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland.
Neurodegener Dis ; 14(4): 204-8, 2014.
Article in En | MEDLINE | ID: mdl-25500937
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 Aß42, 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 Aß42 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.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Fragments / Membrane Transport Proteins / Poly T / Amyloid beta-Peptides / Tau Proteins / Alzheimer Disease Limits: Aged / Aged80 / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Neurodegener Dis Journal subject: NEUROLOGIA Year: 2014 Document type: Article Affiliation country: Finland Country of publication: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Fragments / Membrane Transport Proteins / Poly T / Amyloid beta-Peptides / Tau Proteins / Alzheimer Disease Limits: Aged / Aged80 / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Neurodegener Dis Journal subject: NEUROLOGIA Year: 2014 Document type: Article Affiliation country: Finland Country of publication: Switzerland