http://hdl.handle.net/1765/24992

pubmed: 19847305
scopus: 70449564311



Variation at GRN3′-UTR rs5848 is not associated with a risk of frontotemporal lobar degenerationin Dutch population


Article
volume 4, issue 10.
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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.





Automatically Extracted Terms
  • rs 5848
  • frontotemporal lobar degeneration
  • frontotemporal
  • association
  • ftld-tdp
  • dementia
  • population
  • patient
  • analysis
  • variation
  • series
  • result
  • control
  • degeneration
  • regression analysis
  • rademaker
  • lobar
  • frontotemporal dementia
  • netherland
  • study


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