PLoS ONE (Jan 2009)

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

  • Javier Simón-Sánchez,
  • Harro Seelaar,
  • Zoltán Bochdanovits,
  • Dorly J H Deeg,
  • John C van Swieten,
  • Peter Heutink

DOI
https://doi.org/10.1371/journal.pone.0007494
Journal volume & issue
Vol. 4, no. 10
p. e7494

Abstract

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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).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.The evidence presented here suggests that variation at rs5848 does not contribute to the etiology of FTLD in the Dutch population.