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Nat Genet. 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.

Author information

1
deCODE Genetics, Reykjavik, Iceland.
2
1] Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland. [2] NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
3
School of Medicine, Emory University, Atlanta, Georgia, USA.
4
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.
5
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.
6
1] Department of Psychiatry of Old Age, Oslo University Hospital, Oslo, Norway. [2] Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
7
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.
8
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.
9
Division of Mental Health, Norwegian Institute of Public Health, Oslo, Norway.
10
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.
11
Ageing and Health, Norwegian Centre for Research, Education and Service Development, Vestfold Hospital Trust, Tønsberg, Norway.
12
Department of Psychiatry, University of Halle, Halle, Germany.
13
Sorbonne Universités, Université Pierre et Marie Curie, Département de Neurologie, Hôpital Pitié Salpêtrière, Paris, France.
14
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.
15
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.
16
1] Faculty of Medicine, University of Iceland, Reykjavik, Iceland. [2] Department of Geriatric Medicine, Landspitali University Hospital, Reykjavik, Iceland.
17
Department of Geriatric Medicine, Landspitali University Hospital, Reykjavik, Iceland.
18
1] deCODE Genetics, Reykjavik, Iceland. [2] Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
19
Department of Neurology, Akershus University Hospital, Lørenskog, Norway.
20
Department of Community Medicine, University of Tromsø, Tromsø, Norway.
21
Geriatric Department, University Hospital Oslo and University of Oslo, Oslo, Norway.
22
1] Division of Mental Health, Helse Fonna, Haugesund, Norway. [2] Department of Clinical Medicine, University of Bergen, Bergen, Norway.
23
Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.
24
1] Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway. [2] Department of Psychiatry, Namsos Hospital, Namsos, Norway.
25
1] Institute of Clinical Medicine, University of Oslo, Oslo, Norway. [2] NORMENT-K.G. Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.

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)).

PMID:
25807283
DOI:
10.1038/ng.3246
[Indexed for MEDLINE]

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