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 <0.05% in other European populations). In 433 LOAD cases and 390...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5072721/
https://www.ncbi.nlm.nih.gov/pubmed/27764101
http://dx.doi.org/10.1371/journal.pgen.1006327

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