Authors
Thorlakur Jonsson, Hreinn Stefansson, Stacy Steinberg, Ingileif Jonsdottir, Palmi V Jonsson, Jon Snaedal, Sigurbjorn Bjornsson, Johanna Huttenlocher, Allan I Levey, James J Lah, Dan Rujescu, Harald Hampel, Ina Giegling, Ole A Andreassen, Knut Engedal, Ingun Ulstein, Srdjan Djurovic, Carla Ibrahim-Verbaas, Albert Hofman, M Arfan Ikram, Cornelia M van Duijn, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson
Publication date
2013/1/10
Journal
New England Journal of Medicine
Volume
368
Issue
2
Pages
107-116
Publisher
Massachusetts Medical Society
Description
Background
Sequence variants, including the ε4 allele of apolipoprotein E, have been associated with the risk of the common late-onset form of Alzheimer's disease. Few rare variants affecting the risk of late-onset Alzheimer's disease have been found.
Methods
We obtained the genome sequences of 2261 Icelanders and identified sequence variants that were likely to affect protein function. We imputed these variants into the genomes of patients with Alzheimer's disease and control participants and then tested for an association with Alzheimer's disease. We performed replication tests using case–control series from the United States, Norway, the Netherlands, and Germany. We also tested for a genetic association with cognitive function in a population of unaffected elderly persons.
Results
A rare missense mutation (rs75932628-T) in the gene encoding the triggering receptor expressed on myeloid cells 2 …
Total citations
Scholar articles
T Jonsson, H Stefansson, S Steinberg, I Jonsdottir… - New England Journal of Medicine, 2013