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).
CITATION STYLE
Steinberg, S., Stefansson, H., Jonsson, T., Johannsdottir, H., Ingason, A., Helgason, H., … Stefansson, K. (2015). Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease. Nature Genetics, 47(5), 445–447. https://doi.org/10.1038/ng.3246
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