Title |
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease
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Published in |
Nature Genetics, March 2015
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DOI | 10.1038/ng.3246 |
Pubmed ID | |
Authors |
Stacy Steinberg, Hreinn Stefansson, Thorlakur Jonsson, Hrefna Johannsdottir, Andres Ingason, Hannes Helgason, Patrick Sulem, Olafur Th Magnusson, Sigurjon A Gudjonsson, Unnur Unnsteinsdottir, Augustine Kong, Seppo Helisalmi, Hilkka Soininen, James J Lah, Dag Aarsland, Tormod Fladby, Ingun D Ulstein, Srdjan Djurovic, Sigrid B Sando, Linda R White, Gun-Peggy Knudsen, Lars T Westlye, Geir Selbæk, Ina Giegling, Harald Hampel, Mikko Hiltunen, Allan I Levey, Ole A Andreassen, Dan Rujescu, Palmi V Jonsson, Sigurbjorn Bjornsson, Jon Snaedal, Kari Stefansson |
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)). |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 11 | 31% |
Canada | 3 | 8% |
India | 2 | 6% |
Italy | 2 | 6% |
United Kingdom | 2 | 6% |
France | 1 | 3% |
Ireland | 1 | 3% |
Australia | 1 | 3% |
Iceland | 1 | 3% |
Other | 0 | 0% |
Unknown | 12 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 17 | 47% |
Members of the public | 16 | 44% |
Practitioners (doctors, other healthcare professionals) | 2 | 6% |
Science communicators (journalists, bloggers, editors) | 1 | 3% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | <1% |
United Kingdom | 2 | <1% |
Italy | 2 | <1% |
Germany | 1 | <1% |
Switzerland | 1 | <1% |
Norway | 1 | <1% |
France | 1 | <1% |
Belgium | 1 | <1% |
Canada | 1 | <1% |
Other | 2 | <1% |
Unknown | 422 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 100 | 23% |
Student > Ph. D. Student | 95 | 22% |
Student > Master | 42 | 10% |
Student > Bachelor | 36 | 8% |
Other | 23 | 5% |
Other | 67 | 15% |
Unknown | 74 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 118 | 27% |
Biochemistry, Genetics and Molecular Biology | 68 | 16% |
Neuroscience | 51 | 12% |
Medicine and Dentistry | 50 | 11% |
Computer Science | 9 | 2% |
Other | 41 | 9% |
Unknown | 100 | 23% |