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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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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
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author Simón-Sánchez, Javier
Seelaar, Harro
Bochdanovits, Zoltán
Deeg, Dorly J. H.
van Swieten, John C.
Heutink, Peter
author_facet Simón-Sánchez, Javier
Seelaar, Harro
Bochdanovits, Zoltán
Deeg, Dorly J. H.
van Swieten, John C.
Heutink, Peter
author_sort Simón-Sánchez, Javier
collection PubMed
description 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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spelling pubmed-27615422009-10-22 Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population Simón-Sánchez, Javier Seelaar, Harro Bochdanovits, Zoltán Deeg, Dorly J. H. van Swieten, John C. Heutink, Peter PLoS One Research Article 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. Public Library of Science 2009-10-22 /pmc/articles/PMC2761542/ /pubmed/19847305 http://dx.doi.org/10.1371/journal.pone.0007494 Text en Simon-Sanchez et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Simón-Sánchez, Javier
Seelaar, Harro
Bochdanovits, Zoltán
Deeg, Dorly J. H.
van Swieten, John C.
Heutink, Peter
Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population
title Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population
title_full Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population
title_fullStr Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population
title_full_unstemmed Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population
title_short Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population
title_sort variation at grn 3′-utr rs5848 is not associated with a risk of frontotemporal lobar degeneration in dutch population
topic Research Article
url 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
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