title: Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
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)).
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Stacy
authors: S
authors: Steinberg
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Hreinn
authors: H
authors: Stefansson
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Thorlakur
authors: T
authors: Jonsson
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Hrefna
authors: H
authors: Johannsdottir
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Andres
authors: A
authors: Ingason
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Hannes
authors: H
authors: Helgason
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Patrick
authors: 0000000171236123
authors: P
authors: Sulem
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Olafur Th
authors: OT
authors: Magnusson
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Sigurjon A
authors: SA
authors: Gudjonsson
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Unnur
authors: U
authors: Unnsteinsdottir
authors: deCODE Genetics, Reykjavik, Iceland.
authors: Augustine
authors: A
authors: Kong
authors: 1] Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland. [2] NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
authors: Seppo
authors: S
authors: Helisalmi
authors: 1] Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland. [2] NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
authors: Hilkka
authors: H
authors: Soininen
authors: School of Medicine, Emory University, Atlanta, Georgia, USA.
authors: James J
authors: JJ
authors: Lah
authors: 1] Alzheimer's Disease Research Centre, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden. [2] Center for Age-Related Diseases, Stavanger University Hospital, Stavanger, Norway. [3] Institute of Clinical Medicine, Division of Medicine and Laboratory Sciences, University of Oslo, Oslo, Norway.
authors: Dag
authors: D
authors: Aarsland
authors: 1] Institute of Clinical Medicine, Division of Medicine and Laboratory Sciences, University of Oslo, Oslo, Norway. [2] Department of Neurology, Akershus University Hospital, Lørenskog, Norway.
authors: Tormod
authors: T
authors: Fladby
authors: 1] Department of Psychiatry of Old Age, Oslo University Hospital, Oslo, Norway. [2] Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
authors: Ingun D
authors: ID
authors: Ulstein
authors: 1] Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. [2] NORMENT-K.G. Jebsen Centre, Department of Clinical Science, University of Bergen, Bergen, Norway.
authors: Srdjan
authors: S
authors: Djurovic
authors: 1] Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway. [2] Department of Neurology, St. Olav's Hospital, Trondheim University Hospital, Trondheim, Norway.
authors: Sigrid B
authors: SB
authors: Sando
authors: 1] Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway. [2] Department of Neurology, St. Olav's Hospital, Trondheim University Hospital, Trondheim, Norway.
authors: Linda R
authors: LR
authors: White
authors: Division of Mental Health, Norwegian Institute of Public Health, Oslo, Norway.
authors: Gun-Peggy
authors: GP
authors: Knudsen
authors: 1] NORMENT-K.G. Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. [2] Department of Psychology, University of Oslo, Oslo, Norway.
authors: Lars T
authors: LT
authors: Westlye
authors: Ageing and Health, Norwegian Centre for Research, Education and Service Development, Vestfold Hospital Trust, Tønsberg, Norway.
authors: Geir
authors: G
authors: Selbæk
authors: Department of Psychiatry, University of Halle, Halle, Germany.
authors: Ina
authors: I
authors: Giegling
authors: Sorbonne Universités, Université Pierre et Marie Curie, Département de Neurologie, Hôpital Pitié Salpêtrière, Paris, France.
authors: Harald
authors: H
authors: Hampel
authors: 1] Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland. [2] NeuroCenter, Kuopio University Hospital, Kuopio, Finland. [3] Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
authors: Mikko
authors: M
authors: Hiltunen
authors: School of Medicine, Emory University, Atlanta, Georgia, USA.
authors: Allan I
authors: AI
authors: Levey
authors: 1] NORMENT-K.G. Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. [2] NORMENT-K.G. Jebsen Centre, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
authors: Ole A
authors: OA
authors: Andreassen
authors: Department of Psychiatry, University of Halle, Halle, Germany.
authors: Dan
authors: D
authors: Rujescu
authors: 1] Faculty of Medicine, University of Iceland, Reykjavik, Iceland. [2] Department of Geriatric Medicine, Landspitali University Hospital, Reykjavik, Iceland.
authors: Palmi V
authors: PV
authors: Jonsson
authors: Department of Geriatric Medicine, Landspitali University Hospital, Reykjavik, Iceland.
authors: Sigurbjorn
authors: S
authors: Bjornsson
authors: Department of Geriatric Medicine, Landspitali University Hospital, Reykjavik, Iceland.
authors: Jon
authors: J
authors: Snaedal
authors: 1] deCODE Genetics, Reykjavik, Iceland. [2] Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
authors: Kari
authors: K
authors: Stefansson
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D012306:Risk; D017422:Sequence Analysis, DNA
chemical_list: C411895:ABCA7 protein, human; D018528:ATP-Binding Cassette Transporters