Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease
Steinberg, Stacy; Stefansson, Hreinn; Jonsson, Thorlakur; Johannsdottir, Hrefna; Ingason, Andrés; Helgason, Hannes; Sulem, Patrick; Magnusson, Olafur Th; Gudjunsson, Sigurjon A; Unnsteinsdottir, Unnur; Kong, Augustine; Helisalmi, Seppo; Soininen, Hilkka; Lah, James J; Aarsland, Dag; Fladby, Tormod; Ulstein, Ingun; Djurovic, Srdjan; Sando, Sigrid Botne; White, Linda; Knudsen, Gun Peggy; Westlye, Lars Tjelta; Selbæk, Geir; Giegling, Ina; Hampel, Harald; Hiltunen, Mikko; Levey, AIlan I.; Andreassen, Ole Andreas; Rujescu, Dan; Jonsson, Palmi V.; Bjornsson, Sigurbjorn; Snaedal, Jon; Stefánsson, Kári
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Original versionNature Genetics 2015 doi:10.1038/ng.3246
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. 2, P = 2.2× 10- 3) and discovered that the association replicated in study groups from Europe and the United States (combined OR = 2.03, P = 6.8×10-5).