학술논문
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
Document Type
Article
Author
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
Source
Subject
*GENETICS of Alzheimer's disease
*ETIOLOGY of Alzheimer's disease
*NEURODEGENERATION
*GENETIC disorders
*MESSENGER RNA
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Language
ISSN
1061-4036
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). [ABSTRACT FROM AUTHOR]