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

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 (~0.5% versus

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Veröffentlicht in:	PLoS genetics 2016-10, Vol.12 (10), p.e1006327
Hauptverfasser:	Jakobsdottir, Johanna, van der Lee, Sven J, Bis, Joshua C, Chouraki, Vincent, Li-Kroeger, David, Yamamoto, Shinya, Grove, Megan L, Naj, Adam, Vronskaya, Maria, Salazar, Jose L, DeStefano, Anita L, Brody, Jennifer A, Smith, Albert V, Amin, Najaf, Sims, Rebecca, Ibrahim-Verbaas, Carla A, Choi, Seung-Hoan, Satizabal, Claudia L, Lopez, Oscar L, Beiser, Alexa, Ikram, M Arfan, Garcia, Melissa E, Hayward, Caroline, Varga, Tibor V, Ripatti, Samuli, Franks, Paul W, Hallmans, Göran, Rolandsson, Olov, Jansson, Jan-Håkon, Porteous, David J, Salomaa, Veikko, Eiriksdottir, Gudny, Rice, Kenneth M, Bellen, Hugo J, Levy, Daniel, Uitterlinden, Andre G, Emilsson, Valur, Rotter, Jerome I, Aspelund, Thor, O'Donnell, Christopher J, Fitzpatrick, Annette L, Launer, Lenore J, Hofman, Albert, Wang, Li-San, Williams, Julie, Schellenberg, Gerard D, Boerwinkle, Eric, Psaty, Bruce M, Seshadri, Sudha, Shulman, Joshua M, Gudnason, Vilmundur, van Duijn, Cornelia M
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Aged Alleles Alzheimer Disease - genetics Alzheimer Disease - pathology Alzheimer's disease Alzheimers disease Amyloid beta-Protein Precursor - genetics Animals Apolipoproteins E - genetics Basic Medicine Biology and Life Sciences Clinical medicine Colleges & universities Drosophila Drosophila melanogaster - genetics Drosophila Proteins - genetics Epidemiology Exome - genetics Female Genetic aspects Genetic variation Genetics Genome-Wide Association Study Genomics Health aspects Heart Hospitals Humans Iceland Intracellular Signaling Peptides and Proteins - genetics Male Medical and Health Sciences Medical Genetics Medical research Medicin och hälsovetenskap Medicine Medicine and Health Sciences Medicinsk genetik Medicinska och farmaceutiska grundvetenskaper Membrane Proteins - genetics Mutation Neurology Neurosciences Phenotype Physicians Public health Receptors, Notch - genetics Research and Analysis Methods Social Sciences Tropomyosin - genetics White People
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Zusammenfassung:	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 (~0.5% versus
ISSN:	1553-7404 1553-7390 1553-7404
DOI:	10.1371/journal.pgen.1006327