deCODE Genetics, Reykjavik, Iceland.
1] Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland. [2] NeuroCenter, Kuopio University Hospital, Kuopio, Finland.
Nat Genet. 2015 May;47(5):445-7. doi: 10.1038/ng.3246. Epub 2015 Mar 25.
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)).
我们进行了一项搜索，寻找改变阿尔茨海默病易感性的罕见、功能性变异，利用了与同一疾病相关的常见变异的知识。我们发现 ABCA7 中的功能丧失变异赋予了冰岛人患阿尔茨海默病的风险（优势比 (OR) = 2.12，P = 2.2×10(-13))，并发现该关联在来自欧洲和美国的研究组中得到了复制（合并 OR = 2.03，P = 6.8×10(-15))。
