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. 2015 May;47(5):445-7.
doi: 10.1038/ng.3246. Epub 2015 Mar 25.

Loss-of-function Variants in ABCA7 Confer Risk of Alzheimer's Disease

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Loss-of-function Variants in ABCA7 Confer Risk of Alzheimer's Disease

Stacy Steinberg et al. Nat Genet. .


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)).

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