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  • Jakobsdottir, JohannaIcelandic Heart Association,Erasmus University Medical Center,University of Edinburgh,Howard Hughes Medical Institute,National Heart Lung and Blood Institute,National Institute on Aging, United States (author)

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • 2016-10-20
  • Public Library of Science (PLoS),2016
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:umu-128473
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-128473URI
  • https://doi.org/10.1371/journal.pgen.1006327DOI
  • https://lup.lub.lu.se/record/2bceeac0-cc27-42d2-8748-be9a02d9841dURI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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.

Subject headings and genre

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  • van der Lee, Sven J. (author)
  • Bis, Joshua C.University of Washington (author)
  • Chouraki, VincentFramingham Heart Study (author)
  • Li-Kroeger, DavidTexas Children’s Hospital (author)
  • Yamamoto, ShinyaBaylor College of Medicine (author)
  • Grove, Megan L.University of Texas (author)
  • Naj, AdamUniversity of Pennsylvania (author)
  • Varga, Tibor V.Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups(Swepub:lu)med-tv_ (author)
  • Salazar, Jose L.Baylor College of Medicine (author)
  • DeStefano, Anita L.Boston University (author)
  • Brody, Jennifer A.University of Washington (author)
  • Smith, Albert V.University of Iceland (author)
  • Amin, NajafErasmus University Medical Center (author)
  • Sims, RebeccaCardiff University (author)
  • Ibrahim-Verbaas, Carla A.Erasmus University Medical Center (author)
  • Choi, Seung-HoanBoston University (author)
  • Satizabal, Claudia L.Framingham Heart Study (author)
  • Lopez, Oscar L.University of Pittsburgh Medical Center (author)
  • Beiser, AlexaBoston University (author)
  • Ikram, M. ArfanErasmus University Medical Center (author)
  • Garcia, Melissa E.National Institute on Aging, United States (author)
  • Hayward, CarolineUniversity of Edinburgh (author)
  • Varga, Tibor V. (author)
  • Ripatti, SamuliUniversity of Helsinki (author)
  • Franks, Paul W.Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups(Swepub:lu)med-plf (author)
  • Hallmans, GöranUmeå University,Umeå universitet,Enheten för biobanksforskning(Swepub:umu)goha0001 (author)
  • Rolandsson, OlovUmeå University,Umeå universitet,Allmänmedicin(Swepub:umu)olro0005 (author)
  • Jansson, Jan-HakonSkellefteå Hospital (author)
  • Porteous, David J. (author)
  • Salomaa, VeikkoFinnish National Institute for Health and Welfare (author)
  • Eiriksdottir, GudnyIcelandic Heart Association (author)
  • Rice, Kenneth M.University of Washington (author)
  • Bellen, Hugo J. (author)
  • Levy, DanielNational Heart Lung and Blood Institute (author)
  • Uitterlinden, Andre G.Erasmus University Medical Center (author)
  • Emilsson, ValurUniversity of Iceland (author)
  • Rotter, Jerome I.University of California, Los Angeles (author)
  • Aspelund, ThorUniversity of Iceland (author)
  • O'Donnell, Christopher J. (author)
  • Fitzpatrick, Annette L.University of Washington (author)
  • Launer, Lenore J. (author)
  • Hofman, AlbertErasmus University Medical Center (author)
  • Wang, Li-SanUniversity of Pennsylvania (author)
  • Williams, JulieCardiff University (author)
  • Schellenberg, Gerard D.University of Pennsylvania (author)
  • Boerwinkle, EricBaylor College of Medicine (author)
  • Psaty, Bruce M.Kaiser Permanente Research Institute (author)
  • Seshadri, SudhaFramingham Heart Study (author)
  • Shulman, Joshua M.Baylor College of Medicine (author)
  • Gudnason, VilmundurUniversity of Iceland (author)
  • Van Duijn, Cornelia M.Erasmus University Medical Center (author)
  • Icelandic Heart AssociationErasmus University Medical Center (creator_code:org_t)

Related titles

  • In:PLOS Genetics: Public Library of Science (PLoS)12:101553-73901553-7404

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