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dc.contributor.authorSteinberg, Stacy
dc.contributor.authorStefansson, Hreinn
dc.contributor.authorJonsson, Thorlakur
dc.contributor.authorJohannsdottir, Hrefna
dc.contributor.authorIngason, Andres
dc.contributor.authorHelgason, Hannes
dc.contributor.authorSulem, Patrick
dc.contributor.authorMagnusson, Olafur Th
dc.contributor.authorGudjonsson, Sigurjon A
dc.contributor.authorUnnsteinsdottir, Unnur
dc.contributor.authorKong, Augustine
dc.contributor.authorHelisalmi, Seppo
dc.contributor.authorSoininen, Hilkka
dc.contributor.authorLah, James J
dc.contributor.authorAarsland, Dag
dc.contributor.authorFladby, Tormod
dc.contributor.authorUlstein, Ingun D
dc.contributor.authorDjurovic, Srdjan
dc.contributor.authorSando, Sigrid B
dc.contributor.authorWhite, Linda R
dc.contributor.authorKnudsen, Gun-Peggy
dc.contributor.authorWestlye, Lars T
dc.contributor.authorSelbæk, Geir
dc.contributor.authorGiegling, Ina
dc.contributor.authorHampel, Harald
dc.contributor.authorHiltunen, Mikko
dc.contributor.authorLevey, Allan I
dc.contributor.authorAndreassen, Ole A
dc.contributor.authorRujescu, Dan
dc.contributor.authorJonsson, Palmi V
dc.contributor.authorBjornsson, Sigurbjorn
dc.contributor.authorSnaedal, Jon
dc.contributor.authorStefansson, Kari
dc.date.accessioned2015-07-22T09:41:24Zen
dc.date.available2015-07-22T09:41:24Zen
dc.date.issued2015-05en
dc.date.submitted2015en
dc.identifier.citationNat. Genet. 2015, 47 (5):445-7en
dc.identifier.issn1546-1718en
dc.identifier.pmid25807283en
dc.identifier.doi10.1038/ng.3246en
dc.identifier.urihttp://hdl.handle.net/2336/560870en
dc.description.abstractWe 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)).
dc.description.sponsorshipAcademy of Finland EVO grant of Kuopio University Hospital 5772708 Strategic Funding of the University on Eastern Finland (University of Eastern Finland-Brain) Sigrid Juselius Foundation Framework Programme 601055 VPH Dementia Research Enabled by IT VPH-DARE@IT Research Council of Norway 223273 225989 237250/EU JPND K.G. Jebsen Foundation Norwegian Health Association AXA Research Fund, Paris, France Fondation Universite Pierre et Marie Curie, Paris, France Fondation pour la Recherche sur Alzheimer, Paris, France program 'Investissements d'Avenir' ANR-10-IAIHU-06en
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.relation.urlhttp://dx.doi.org/ 10.1038/ng.3246en
dc.relation.urlhttp://www.nature.com/ng/journal/v47/n5/pdf/ng.3246.pdfen
dc.rightsArchived with thanks to Nature geneticsen
dc.subjectAlzheimer sjúkdómuren
dc.subjectArfgengien
dc.subject.meshATP-Binding Cassette Transportersen
dc.subject.meshAlzheimer Diseaseen
dc.subject.meshCase-Control Studiesen
dc.subject.meshGenetic Association Studiesen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHaplotypesen
dc.subject.meshHumansen
dc.subject.meshMutationen
dc.subject.meshRisken
dc.subject.meshSequence Analysis, DNAen
dc.titleLoss-of-function variants in ABCA7 confer risk of Alzheimer's disease.en
dc.typeArticleen
dc.contributor.department[ 1 ] DeCODE Genet, Reykjavik, Iceland [ 2 ] Univ Eastern Finland, Inst Clin Med Neurol, Kuopio, Finland [ 3 ] Kuopio Univ Hosp, NeuroCtr, Kuopio, Finland [ 4 ] Emory Univ, Sch Med, Atlanta, GA USA [ 5 ] Karolinska Inst, Alzheimers Dis Res Ctr, Dept Neurobiol Care Sci & Soc, Stockholm, Sweden [ 6 ] Stavanger Univ Hosp, Ctr Age Related Dis, Stavanger, Norway [ 7 ] Univ Oslo, Div Med & Lab Sci, Inst Clin Med, Oslo, Norway [ 8 ] Akershus Univ Hosp, Dept Neurol, Lorenskog, Norway [ 9 ] Oslo Univ Hosp, Dept Psychiat Old Age, Oslo, Norway [ 10 ] Univ Oslo, Inst Clin Med, Oslo, Norway [ 11 ] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway [ 12 ] Univ Bergen, Dept Clin Sci, NORMENT KG Jebsen Ctr, Bergen, Norway [ 13 ] Norwegian Univ Sci & Technol, Dept Neurosci, N-7034 Trondheim, Norway [ 14 ] Univ Trondheim Hosp, St Olavs Hosp, Dept Neurol, Trondheim, Norway [ 15 ] Norwegian Inst Publ Hlth, Div Mental Hlth, Oslo, Norway [ 16 ] Oslo Univ Hosp, Div Mental Hlth & Addict, NORMENT KG Jebsen Ctr Psychosis Res, Oslo, Norway [ 17 ] Univ Oslo, Dept Psychol, Oslo, Norway [ 18 ] Vestfold Hosp Trust, Norwegian Ctr Res Educ & Serv Dev, Ageing & Hlth, Tonsberg, Norway [ 19 ] Univ Halle Wittenberg, Dept Psychiat, D-06108 Halle, Germany [ 20 ] Univ Paris 06, Univ Paris 04, Dept Neurol, Hop Pitie Salpetriere, Paris, France [ 21 ] Univ Eastern Finland, Inst Biomed, Kuopio, Finland [ 22 ] Univ Oslo, Inst Clin Med, NORMENT KG Jebsen Ctr, Oslo, Norway [ 23 ] Univ Iceland, Fac Med, Reykjavik, Iceland [ 24 ] Landspitali Univ Hosp, Dept Geriatr Med, Reykjavik, Icelanden
dc.identifier.journalNature geneticsen
dc.rights.accessLandspitali Access - LSH-aðganguren
html.description.abstractWe 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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