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PLoS One. 2009 Oct 22;4(10):e7494. doi: 10.1371/journal.pone.0007494.

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

Author information

1
Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam, The Netherlands.

Abstract

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.

PMID:
19847305
PMCID:
PMC2761542
DOI:
10.1371/journal.pone.0007494
[Indexed for MEDLINE]
Free PMC Article

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