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- Title
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
- Authors
Steinberg, Stacy; Stefansson, Hreinn; Jonsson, Thorlakur; Johannsdottir, Hrefna; Ingason, Andres; Helgason, Hannes; Sulem, Patrick; Magnusson, Olafur Th; Gudjonsson, Sigurjon A; Unnsteinsdottir, Unnur; Kong, Augustine; Westlye, Lars T; Selbæk, Geir; Giegling, Ina; Rujescu, Dan; Hampel, Harald; Hiltunen, Mikko; Andreassen, Ole A; Jonsson, Palmi V; Bjornsson, Sigurbjorn
- Abstract
We conducted a search for rare, functional variants altering susceptibility to Alzheimer's disease that exploited knowledge of common variants associated with the same disease. We found that loss-of-function variants in ABCA7 confer risk of Alzheimer's disease in Icelanders (odds ratio (OR) = 2.12, P = 2.2 × 10−13) and discovered that the association replicated in study groups from Europe and the United States (combined OR = 2.03, P = 6.8 × 10−15).
- Subjects
GENETICS of Alzheimer's disease; ETIOLOGY of Alzheimer's disease; NEURODEGENERATION; GENETIC disorders; MESSENGER RNA
- Publication
Nature Genetics, 2015, Vol 47, Issue 5, p445
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.3246