11 Result(s)

Article

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architect...

Ruth Chia, Marya S. Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar… in Nature Genetics (2021)

Article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinicall...

Brian W. Kunkle, Benjamin Grenier-Boley, Rebecca Sims, Joshua C. Bis… in Nature Genetics (2019)

Article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sven van der Lee, Julie Williams, Gerard Schellenberg and colleagues identify rare coding variants in PLCG2, ABI3 and TREM2 associated with Alzheimer's disease. These genes are highly expressed in microglia and p...

Rebecca Sims, Sven J van der Lee, Adam C Naj, Céline Bellenguez… in Nature Genetics (2017)

Article

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Rosa Rademakers and colleagues show that mutations in CSF1R cause hereditary diffuse leukoencephalopathy with spheroids, a central nervous system white-matter disease with variable clinical presentations that inc...

Rosa Rademakers, Matt Baker, Alexandra M Nicholson, Nicola J Rutherford… in Nature Genetics (2012)

Article

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

Gerard Schellenberg and colleagues report a genome-wide association study of late-onset Alzheimer's disease (LOAD), as part of the Alzheimer Disease Genetics Consortium. They identify common variants in MS4A4/MS4...

Adam C Naj, Gyungah Jun, Gary W Beecham, Li-San Wang… in Nature Genetics (2011)

Article

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Vivianna Van Deerlin and colleagues report that common variants at 7p21 are associated with a subtype of frontotemporal lobar degeneration marked by TDP-43 inclusions. They further show that the risk alleles a...

Vivianna M Van Deerlin, Patrick M A Sleiman, Maria Martinez-Lage… in Nature Genetics (2010)

Article

Common variants of ACE contribute to variable age-at-onset of Alzheimer’s disease

Studies on the role that genetic variation may play in a complex human disease can be empowered by an assessment of both disease risk in case-control or family models and of quantitative traits that reflect el...

Patrick G. Kehoe, Hagit Katzov, Niels Andreasen, Maragaret Gatz… in Human Genetics (2004)

Article

α-2 macroglobulin polymorphism and Alzheimer disease risk in the UK

David J. Dow, Nicola Lindsey, Nigel J. Cairns, Carol Brayne… in Nature Genetics (1999)

Article

Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease

Patrick G. Kehoe, Carsten Russ, Stephen McIlroy, Hywel Williams… in Nature Genetics (1999)