Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

@article{Steinberg2015LossoffunctionVI,
  title={Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease},
  author={S. Steinberg and H. Stef{\'a}nsson and T. J{\'o}nsson and Hrefna S J{\'o}hannsd{\'o}ttir and A. Ingason and H. Helgason and P. Sulem and O. Magnusson and S. A. Gudjonsson and U. Unnsteinsdottir and A. Kong and S. Helisalmi and H. Soininen and J. Lah and D. Aarsland and T. Fladby and I. Ulstein and S. Djurovic and S. Sando and L. White and G. Knudsen and L. Westlye and G. Selb{\ae}k and I. Giegling and H. Hampel and M. Hiltunen and A. Levey and O. Andreassen and D. Rujescu and P. Jonsson and S. Bjornsson and J. Snaedal and K. Stef{\'a}nsson},
  journal={Nature Genetics},
  year={2015},
  volume={47},
  pages={445-447}
}
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). 
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