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PSMC1 gene in Parkinson's disease

AuthorsGómez-Garre, Pilar; Gao, Lin; Mir, Pablo
Issue Date2012
PublisherS. Karger AG
CitationEuropean Neurology 68(4): 193-198 (2012)
AbstractBackground: Impairment of the ubiquitin-proteasome system has been suggested to play an important role in the pathogenesis of Parkinson's disease (PD). The 26S proteasome regulatory subunit 1 is encoded by the gene PSMC1 in humans. PSMC1 knockout mice showed a PD-like phenotype. Our aim was to analyze the association between variations in this gene and the susceptibility to develop PD.
Methods: We included 283 PD patients (165 males and 118 females) with a mean age of 63.6 ± 11.2 years (mean age at onset 55.4 ± 12.7 years), and 316 unrelated control subjects (193 males and 123 females) with a mean age of 61.5 ± 12.3 years. Four polymorphisms, providing haplotype information of PSMC1, were genotyped using TaqMan assays. Moreover, in order to identify new variations, all exons of the PSMC1 gene and their exon-intron boundaries were analyzed using high-resolution melting analysis.
Results: Minor allele frequencies in PD patients and control subjects were similar. The gene coding sequence analysis showed no variation associated with the disease either.
Conclusions: Our results suggest that there is no association between variations or haplotypes in the PSMC1 gene and PD, indicating that this gene is probably not involved in the pathogenesis of PD. Copyright © 2012 S. Karger AG, Basel.
Identifiersdoi: 10.1159/000339003
issn: 0014-3022
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