학술논문
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
Document Type
article
Author
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; van Duijn, Cornelia M
Source
PLoS genetics. 12(10)
Subject
Language
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