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

doi:10.1038/ng.3246

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Article

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

Nature genetics - 1 May 2015

Steinberg Stacy, Stefansson Hreinn, Jonsson Thorlakur, Johannsdottir Hrefna, Ingason Andres, Helgason Hannes, Sulem Patrick, Magnusson Olafur Th, Gudjonsson Sigurjon A, Unnsteinsdottir Unnur, Kong Augustine, Helisalmi Seppo, Soininen Hilkka, Lah James J, Aarsland Dag, Fladby Tormod, Ulstein Ingun D, Djurovic Srdjan, Sando Sigrid B, White Linda R, Knudsen Gun-Peggy, Westlye Lars T, Selbæk Geir, Giegling Ina, Hampel Harald, Hiltunen Mikko, Levey Allan I, Andreassen Ole A, Rujescu Dan, Jonsson Palmi V, Bjornsson Sigurbjorn, Snaedal Jon, Stefansson Kari

Abstract excerpt

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) = 2.1...

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PMID: 25807283
DOI: 10.1038/ng.3246

Genes

ABCA7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25807283-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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