Article
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
PLoS genetics - 1 Oct 2016
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
Abstract excerpt
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 3903 controls from the Icelandic AGES sub-study, P155L was associated with increased risk and earlier onset of LOAD [odds...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.