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Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
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2016 (English)In: PLoS Genetics, ISSN 1553-7390, E-ISSN 1553-7404, Vol. 12, no 10, e1006327Article in journal (Refereed) Published
Abstract [en]

We performed an exome-wide association analysis in 1393 late-onset Alzheimer's disease (LOAD) cases and 8141 controls from the CHARGE consortium. We found that a rare variant (P155L) in TM2D3 was enriched in Icelanders (similar to 0.5% versus < 0.05% in other European populations). In 433 LOAD cases and 3903 controls from the Icelandic AGES substudy, P155L was associated with increased risk and earlier onset of LOAD [odds ratio (95% CI) = 7.5 (3.5-15.9), p = 6.6x10(-9)]. Mutation in the Drosophila TM2D3 homolog, almondex, causes a phenotype similar to loss of Notch/Presenilin signaling. Human TM2D3 is capable of rescuing these phenotypes, but this activity is abolished by P155L, establishing it as a functionally damaging allele. Our results establish a rare TM2D3 variant in association with LOAD susceptibility, and together with prior work suggests possible links to the beta-amyloid cascade.

Place, publisher, year, edition, pages
2016. Vol. 12, no 10, e1006327
National Category
Neurosciences
Identifiers
URN: urn:nbn:se:umu:diva-128473DOI: 10.1371/journal.pgen.1006327ISI: 000386683300009PubMedID: 27764101OAI: oai:DiVA.org:umu-128473DiVA: diva2:1056677
Available from: 2016-12-15 Created: 2016-12-05 Last updated: 2016-12-15Bibliographically approved

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Franks, Paul W.Hallmans, GöranRolandsson, Olov
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CiteExportLink to record
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Citation style
  • apa
  • harvard1
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