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Rare Functional Var...
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
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- Jakobsdottir, Johanna (author)
- Icelandic 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
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van der Lee, Sven J. (author)
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- Bis, Joshua C. (author)
- University of Washington
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- Chouraki, Vincent (author)
- Framingham Heart Study
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- Li-Kroeger, David (author)
- Texas Children’s Hospital
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- Yamamoto, Shinya (author)
- Baylor College of Medicine
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- Grove, Megan L. (author)
- University of Texas
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- Naj, Adam (author)
- University of Pennsylvania
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- Varga, Tibor V. (author)
- Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups
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- Salazar, Jose L. (author)
- Baylor College of Medicine
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- DeStefano, Anita L. (author)
- Boston University
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- Brody, Jennifer A. (author)
- University of Washington
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- Smith, Albert V. (author)
- University of Iceland
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- Amin, Najaf (author)
- Erasmus University Medical Center
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- Sims, Rebecca (author)
- Cardiff University
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- Ibrahim-Verbaas, Carla A. (author)
- Erasmus University Medical Center
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- Choi, Seung-Hoan (author)
- Boston University
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- Satizabal, Claudia L. (author)
- Framingham Heart Study
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- Lopez, Oscar L. (author)
- University of Pittsburgh Medical Center
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- Beiser, Alexa (author)
- Boston University
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- Ikram, M. Arfan (author)
- Erasmus University Medical Center
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- Garcia, Melissa E. (author)
- National Institute on Aging, United States
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- Hayward, Caroline (author)
- University of Edinburgh
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Varga, Tibor V. (author)
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- Ripatti, Samuli (author)
- University of Helsinki
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- Franks, Paul W. (author)
- Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups
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- Hallmans, Göran (author)
- Umeå University,Umeå universitet,Enheten för biobanksforskning
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- Rolandsson, Olov (author)
- Umeå University,Umeå universitet,Allmänmedicin
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- Jansson, Jan-Hakon (author)
- Skellefteå Hospital
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Porteous, David J. (author)
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- Salomaa, Veikko (author)
- Finnish National Institute for Health and Welfare
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- Eiriksdottir, Gudny (author)
- Icelandic Heart Association
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- Rice, Kenneth M. (author)
- University of Washington
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Bellen, Hugo J. (author)
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- Levy, Daniel (author)
- National Heart Lung and Blood Institute
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- Uitterlinden, Andre G. (author)
- Erasmus University Medical Center
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- Emilsson, Valur (author)
- University of Iceland
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- Rotter, Jerome I. (author)
- University of California, Los Angeles
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- Aspelund, Thor (author)
- University of Iceland
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O'Donnell, Christopher J. (author)
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- Fitzpatrick, Annette L. (author)
- University of Washington
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Launer, Lenore J. (author)
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- Hofman, Albert (author)
- Erasmus University Medical Center
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- Wang, Li-San (author)
- University of Pennsylvania
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- Williams, Julie (author)
- Cardiff University
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- Schellenberg, Gerard D. (author)
- University of Pennsylvania
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- Boerwinkle, Eric (author)
- Baylor College of Medicine
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- Psaty, Bruce M. (author)
- Kaiser Permanente Research Institute
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- Seshadri, Sudha (author)
- Framingham Heart Study
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- Shulman, Joshua M. (author)
- Baylor College of Medicine
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- Gudnason, Vilmundur (author)
- University of Iceland
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- Van Duijn, Cornelia M. (author)
- Erasmus University Medical Center
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(creator_code:org_t)
- 2016-10-20
- 2016
- English.
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In: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 12:10
- Related links:
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https://journals.plo...
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
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- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Jakobsdottir, Jo ...
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van der Lee, Sve ...
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Bis, Joshua C.
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Chouraki, Vincen ...
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Li-Kroeger, Davi ...
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Yamamoto, Shinya
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show more...
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Grove, Megan L.
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Naj, Adam
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Varga, Tibor V.
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Salazar, Jose L.
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DeStefano, Anita ...
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Brody, Jennifer ...
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Smith, Albert V.
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Amin, Najaf
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Sims, Rebecca
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Ibrahim-Verbaas, ...
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Choi, Seung-Hoan
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Satizabal, Claud ...
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Lopez, Oscar L.
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Beiser, Alexa
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Ikram, M. Arfan
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Garcia, Melissa ...
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Hayward, Carolin ...
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Ripatti, Samuli
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Franks, Paul W.
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Hallmans, Göran
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Rolandsson, Olov
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Jansson, Jan-Hak ...
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Porteous, David ...
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Salomaa, Veikko
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Eiriksdottir, Gu ...
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Rice, Kenneth M.
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Bellen, Hugo J.
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Levy, Daniel
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Uitterlinden, An ...
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Emilsson, Valur
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Rotter, Jerome I ...
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Aspelund, Thor
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O'Donnell, Chris ...
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Fitzpatrick, Ann ...
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Launer, Lenore J ...
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Hofman, Albert
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Wang, Li-San
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Williams, Julie
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Schellenberg, Ge ...
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Boerwinkle, Eric
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Psaty, Bruce M.
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Seshadri, Sudha
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Shulman, Joshua ...
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Gudnason, Vilmun ...
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Van Duijn, Corne ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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PLOS Genetics
- By the university
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Umeå University
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Lund University