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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Persistent URL dx.doi.org/10.1371/journal.pone.0007494, hdl.handle.net/1765/24992
Citation
Simón-Sánchez, J., Seelaar, H., Bochdanovits, Z., Deeg, D.J.H., van Swieten, J.C., & Heutink, P.. (2009). Variation at GRN3′-UTR rs5848 is not associated with a risk of frontotemporal lobar degenerationin Dutch population. PLoS ONE, 4(10). doi:10.1371/journal.pone.0007494