학술논문
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
Document Type
article
Author
Johanna Jakobsdottir; Sven J van der Lee; Joshua C Bis; Vincent Chouraki; David Li-Kroeger; Shinya Yamamoto; Megan L Grove; Adam Naj; Maria Vronskaya; Jose L Salazar; Anita L DeStefano; Jennifer A Brody; Albert V Smith; Najaf Amin; Rebecca Sims; Carla A Ibrahim-Verbaas; Seung-Hoan Choi; Claudia L Satizabal; Oscar L Lopez; Alexa Beiser; M Arfan Ikram; Melissa E Garcia; Caroline Hayward; Tibor V Varga; Samuli Ripatti; Paul W Franks; Göran Hallmans; Olov Rolandsson; Jan-Håkon Jansson; David J Porteous; Veikko Salomaa; Gudny Eiriksdottir; Kenneth M Rice; Hugo J Bellen; Daniel Levy; Andre G Uitterlinden; Valur Emilsson; Jerome I Rotter; Thor Aspelund; Cohorts for Heart and Aging Research in Genomic Epidemiology consortium; Alzheimer’s Disease Genetic Consortium; Genetic and Environmental Risk in Alzheimer’s Disease consortium; Christopher J O'Donnell; Annette L Fitzpatrick; Lenore J Launer; Albert Hofman; Li-San Wang; Julie Williams; Gerard D Schellenberg; Eric Boerwinkle; Bruce M Psaty; Sudha Seshadri; Joshua M Shulman; Vilmundur Gudnason; Cornelia M van Duijn
Source
PLoS Genetics, Vol 12, Iss 10, p e1006327 (2016)
Subject
Language
English
ISSN
1553-7390
1553-7404
1553-7404
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