Literature DB >> 25807283

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

Stacy Steinberg1, Hreinn Stefansson1, Thorlakur Jonsson1, Hrefna Johannsdottir1, Andres Ingason1, Hannes Helgason1, Patrick Sulem1, Olafur Th Magnusson1, Sigurjon A Gudjonsson1, Unnur Unnsteinsdottir1, Augustine Kong1, Seppo Helisalmi2, Hilkka Soininen2, James J Lah3, Dag Aarsland4, Tormod Fladby5, Ingun D Ulstein6, Srdjan Djurovic7, Sigrid B Sando8, Linda R White8, Gun-Peggy Knudsen9, Lars T Westlye10, Geir Selbæk11, Ina Giegling12, Harald Hampel13, Mikko Hiltunen14, Allan I Levey3, Ole A Andreassen15, Dan Rujescu12, Palmi V Jonsson16, Sigurbjorn Bjornsson17, Jon Snaedal17, Kari Stefansson18.   

Abstract

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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Year:  2015        PMID: 25807283     DOI: 10.1038/ng.3246

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  133 in total

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2.  Biomedicine: Human genes lost and their functions found.

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Authors:  Unnur Styrkarsdottir; Hannes Helgason; Asgeir Sigurdsson; Gudmundur L Norddahl; Arna B Agustsdottir; Louise N Reynard; Amanda Villalvilla; Gisli H Halldorsson; Aslaug Jonasdottir; Audur Magnusdottir; Asmundur Oddson; Gerald Sulem; Florian Zink; Gardar Sveinbjornsson; Agnar Helgason; Hrefna S Johannsdottir; Anna Helgadottir; Hreinn Stefansson; Solveig Gretarsdottir; Thorunn Rafnar; Ina S Almdahl; Anne Brækhus; Tormod Fladby; Geir Selbæk; Farhad Hosseinpanah; Fereidoun Azizi; Jung Min Koh; Nelson L S Tang; Maryam S Daneshpour; Jose I Mayordomo; Corrine Welt; Peter S Braund; Nilesh J Samani; Lambertus A Kiemeney; L Stefan Lohmander; Claus Christiansen; Ole A Andreassen; Olafur Magnusson; Gisli Masson; Augustine Kong; Ingileif Jonsdottir; Daniel Gudbjartsson; Patrick Sulem; Helgi Jonsson; John Loughlin; Thorvaldur Ingvarsson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nat Genet       Date:  2017-03-20       Impact factor: 38.330

Review 4.  Untangling Genetic Risk for Alzheimer's Disease.

Authors:  Anna A Pimenova; Towfique Raj; Alison M Goate
Journal:  Biol Psychiatry       Date:  2017-05-22       Impact factor: 13.382

5.  Novel susceptibility loci for Alzheimer's disease.

Authors:  Christiane Reitz
Journal:  Future Neurol       Date:  2015-12

Review 6.  Mitochondria-associated ER membranes and Alzheimer disease.

Authors:  Estela Area-Gomez; Eric A Schon
Journal:  Curr Opin Genet Dev       Date:  2016-05-25       Impact factor: 5.578

7.  Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms.

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Journal:  Alzheimers Dement       Date:  2017-09-21       Impact factor: 21.566

8.  Integrating Next-Generation Genomic Sequencing and Mass Spectrometry To Estimate Allele-Specific Protein Abundance in Human Brain.

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9.  Genetic Comparison of Symptomatic and Asymptomatic Persons With Alzheimer Disease Neuropathology.

Authors:  Sarah E Monsell; Charles Mock; David W Fardo; Sarah Bertelsen; Nigel J Cairns; Catherine M Roe; Sally R Ellingson; John C Morris; Alison M Goate; Walter A Kukull
Journal:  Alzheimer Dis Assoc Disord       Date:  2017 Jul-Sep       Impact factor: 2.703

Review 10.  Transporters as Drug Targets in Neurological Diseases.

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Journal:  Clin Pharmacol Ther       Date:  2016-08-27       Impact factor: 6.875

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