Variation at GRN 3a2-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population

• Published in: PloS one 2009-01, Vol.4 (10), p.e7494-e7494
• Main Authors: Simon-Sanchez, Javier, Seelaar, Harro, Bochdanovits, Zoltan, Deeg, Dorly JH, van Swieten, John C, Heutink, Peter, Domschke, Katharina
• Format: Article
• Language: English
• ISSN: 1932-6203
• DOI: 10.1371/journal.pone.0007494

Background A single nucleotide polymorphism (rs5848) located in the 3a2- 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.