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

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 f...

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Detalles Bibliográficos
Autores principales: Simón-Sánchez, Javier, Seelaar, Harro, Bochdanovits, Zoltán, Deeg, Dorly J. H., van Swieten, John C., Heutink, Peter
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761542/
https://www.ncbi.nlm.nih.gov/pubmed/19847305
http://dx.doi.org/10.1371/journal.pone.0007494
Descripción
Sumario: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.