Abstract
Recently, Iida et al. discovered a new single-nucleotide polymorphism (SNP) in the
ZNF512B gene associated with susceptibility to amyotrophic lateral sclerosis (ALS).
The ZNF512B gene was found to be a transcription factor promoting the expression of
a downstream gene in the signal transduction pathway of the transforming growth factor-β
(TGF-β), which is essential for the protection and survival of neurons but the influence
of the new SNP (rs2275294) in actual ALS patients remained unknown. The objective
of our study was to examine whether the new SNP in the ZNF512B gene might influence
the phenotype of ALS. We conducted a retrospective analysis of the ZNF512B gene in
176 patients diagnosed as having ALS at our hospital. Evaluation of the prognosis
after the onset using Kaplan–Meier survival curves in patients with versus without
the risk allele (C allele: CC and CT genotypes) revealed a significantly lower survival
probability in those with the risk allele (log-rank test, P<0.01), independent of the other prognostic factors in ALS. Our study revealed the
influence of the new SNP in actual ALS patients. It would be clinically reasonable
to suggest that the ZNF512B gene is a new prognostic factor in ALS. This study is
the first, as per our knowledge, to indicate that the association between the new
susceptibility gene for ALS and its pathway could be identified.
Keywords
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Article info
Publication history
Published online: November 19, 2012
Accepted:
October 30,
2012
Received in revised form:
October 30,
2012
Received:
September 19,
2012
Identification
Copyright
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
