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Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population
Author(s) -
Javier SimónSánchez,
Harro Seelaar,
Zoltán Bochdanovits,
Dorly J. H. Deeg,
John C. van Swieten,
Peter Heutink
Publication year - 2009
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0007494
Subject(s) - frontotemporal lobar degeneration , single nucleotide polymorphism , population , biology , genetics , pathology , frontotemporal dementia , snp , medicine , genotype , dementia , disease , gene , environmental health
Background A single nucleotide polymorphism (rs5848) located in the 3′- untranslated region of GRN has recently been associated with a risk of frontotemporal lobar degeneration (FTLD) in North American population particularly in pathologically confirmed cases with neural inclusions immunoreactive for ubiquitin and TAR DNA-binding protein 43 (TDP-43), but negative for tau and alpha-synuclein (FTLD-TDP). Methodology/Principal Findings In an effort to replicate these results in a different population, rs5848 was genotyped in 256 FTLD cases and 1695 controls from the Netherlands. Single SNP gender-adjusted logistic regression analysis revealed no significant association between variation at rs5848 and FTLD. Fisher's exact test, failed to find any significant association between rs5848 and a subset of 23 pathology confirmed FTLD-TDP cases. Conclusions/Significance The evidence presented here suggests that variation at rs5848 does not contribute to the etiology of FTLD in the Dutch population.

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