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Steinberg, Stacy; Stefansson, Hreinn; Jonsson, Thorlakur; Johannsdottir, Hrefna; Ingason, Andres; Helgason, Hannes; Sulem, Patrick; Magnusson, Olafur Th; Gudjonsson, Sigurjon A; Unnsteinsdottir, Unnur; Kong, Augustine; Helisalmi, Seppo; Soininen, Hilkka; Lah, James J; Aarsland, Dag; Fladby, Tormod; Ulstein, Ingun D; Djurovic, Srdjan; Sando, Sigrid B; White, Linda R; Knudsen, Gun-Peggy; Westlye, Lars T; Selbæk, Geir; Giegling, Ina; Hampel, Harald; Hiltunen, Mikko; Levey, Allan I; Andreassen, Ole A; Rujescu, Dan; Jonsson, Palmi V; Bjornsson, Sigurbjorn; Snaedal, Jon; Stefansson, Kari
Nature genetics, 05/2015, Letnik: 47, Številka: 5Journal Article
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)).
