1. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
- Author
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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, Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, Alzheimer’s Disease Genetic Consortium, Genetic and Environmental Risk in Alzheimer’s Disease consortium, 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, and van Duijn, Cornelia M
- Subjects
Cohorts for Heart and Aging Research in Genomic Epidemiology consortium ,Alzheimer’s Disease Genetic Consortium ,Genetic and Environmental Risk in Alzheimer’s Disease consortium ,Animals ,Humans ,Drosophila melanogaster ,Alzheimer Disease ,Intracellular Signaling Peptides and Proteins ,Amyloid beta-Protein Precursor ,Apolipoproteins E ,Tropomyosin ,Drosophila Proteins ,Membrane Proteins ,Genomics ,Age of Onset ,Phenotype ,Mutation ,Alleles ,Aged ,European Continental Ancestry Group ,Iceland ,Female ,Male ,Receptors ,Notch ,Genome-Wide Association Study ,Exome ,Receptors ,Notch ,Genetics ,Developmental Biology - Abstract
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
- Published
- 2016