Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

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).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 reve... Mehr ...

Verfasser: Javier Simón-Sánchez
Harro Seelaar
Zoltán Bochdanovits
Dorly J H Deeg
John C van Swieten
Peter Heutink
Dokumenttyp: Artikel
Erscheinungsdatum: 2009
Reihe/Periodikum: PLoS ONE, Vol 4, Iss 10, p e7494 (2009)
Verlag/Hrsg.: Public Library of Science (PLoS)
Schlagwörter: Medicine / R / Science / Q
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-28987742
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://doi.org/10.1371/journal.pone.0007494

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).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.The evidence presented here suggests that variation at rs5848 does not contribute to the etiology of FTLD in the Dutch population.