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Nature Research, Nature Genetics, 5(47), p. 445-447, 2015

DOI: 10.1038/ng.3246

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Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

Journal article published in 2015 by Aree Witoelar, Linda R. White, Lars Tjelta Westlye ORCID, Stacy Steinberg, Thorlakur Jonsson, T. Jonsson, Hreinn Stefansson, Olafur Th Magnusson, Sigurjon A. Gudjonsson, Hrefna Johannsdottir, Sigurjon A. Gudjunsson, Andres Ingason, Ina Selseth Almdahl, Hannes Helgason, James J. Lah and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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)).