Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions

Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions

Abstract Genetic factors play a major role in frontotemporal dementia (FTD). The majority of FTD cannot be genetically explained yet and it is likely that there are still FTD risk loci to be discovered. Common variants have been identified with genome-wide association studies (GWAS), but these studi...

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Main Authors: Lianne M. Reus, Iris E. Jansen, Merel O. Mol, Fred van Ruissen, Jeroen van Rooij, Natasja M. van Schoor, Niccolò Tesi, Marcel J. T. Reinders, Martijn A. Huisman, Henne Holstege, Pieter Jelle Visser, Sterre C. M. de Boer, Marc Hulsman, Shahzad Ahmad, Najaf Amin, Andre G. Uitterlinden, Arfan Ikram, Cornelia M. van Duijn, Harro Seelaar, Inez H. G. B. Ramakers, Frans R. J. Verhey, Aad van der Lugt, Jurgen A. H. R. Claassen, Geert Jan Biessels, Peter Paul De Deyn, Philip Scheltens, Wiesje M. van der Flier, John C. van Swieten, Yolande A. L. Pijnenburg, Sven J. van der Lee
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:Translational Psychiatry
Online Access:https://doi.org/10.1038/s41398-021-01577-3

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https://doi.org/10.1038/s41398-021-01577-3

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