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

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

Nature Genetics, 2015. DOI 10.1038/ng.3246

Has this study been replicated?

The atlas records 1 replication of this study. Recorded outcomes: 1 mixed.

Replications

• Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European–Americans, Del-Aguila et al. (2015). Outcome recorded: mixed. However, we did replicate the association at the gene level; we found a significant enrichment of ABCA7 loss-of-function variants in AD cases compared to controls ( P = 0.0388; odds ratio =1.54). View paper

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