Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
Stacy SteinbergHreinn StefanssonThorlakur JonssonHrefna JohannsdottirAndres IngasonHannes HelgasonPatrick SulemOlafur Th MagnussonSigurjon A GudjonssonUnnur UnnsteinsdottirAugustine KongSeppo HelisalmiHilkka SoininenJames J Lahnull nullDag AarslandTormod FladbyIngun D UlsteinSrdjan DjurovicSigrid B SandoLinda R WhiteGun-Peggy KnudsenLars T WestlyeGeir SelbækIna GieglingHarald HampelMikko HiltunenAllan I LeveyOle A AndreassenDan RujescuPalmi V JonssonSigurbjorn BjornssonJon SnaedalKari StefanssonPublished in: Nature genetics (2015)
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)).