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- Title
DCUN1D1 is a risk factor for frontotemporal lobar degeneration.
- Authors
Villa, C.; Venturelli, E.; Fenoglio, C.; Clerici, F.; Marcone, A.; Benussi, L.; Gallone, S.; Scalabrini, D.; Cortini, F.; Serpente, M.; Martinelli Boneschi, F.; Cappa, S.; Binetti, G.; Mariani, C.; Rainero, I.; Giordana, M. T.; Bresolin, N.; Scarpini, E.; Galimberti, D.
- Abstract
Background and purpose: Frontotemporal lobar degeneration (FTLD) is considered as a proteinopathy; therefore, it is conceivable that genes encoding for factors involved in protein misfolding and/or degradation could play a role in its pathogenesis. Methods: An association study of defective in cullin neddylation 1 ( DCN-1)-domain containing 1 ( DCUN1D1), which is involved in protein degradation, was carried out in a population of 220 patients with FTLD as compared with 229 age-matched controls. Results: A statistically significant increased frequency of the GG genotype of the DCUN1D1 rs4859146 single nucleotide polymorphism (SNP) was observed in patients compared with controls (6.9 vs. 1.7%, P = 0.011, adjusted OR: 4.39, 95% CI: 1.40–13.78). Stratifying according to the clinical syndrome, significant differences were observed between the behavioral variant of frontotemporal dementia and controls ( GG frequency: 6.3 vs. 1.7%, P = 0.02, OR:4.0, 95%, CI = 1.24–12.92), as well as between patients with progressive aphasia compared with controls (15.4 vs. 1.7%, P = 0.014, OR = 11.30, 95%, CI = 1.63–78.45), but not in patients with SD versus controls (8.3 vs. 1.7%, P = 0.18, OR = 5.24, 95% C.I. = 0.45–60.63). No significant differences in allelic and genotypic frequencies of the DCUN1D1 rs4859147 SNP were found. Conclusions: The GG genotype of the DCUN1D1 rs4859147 SNP represents a risk factor for the development of FTLD, increasing the risk of about fourfold.
- Subjects
BRAIN diseases; PATIENT participation; GENETIC polymorphisms; GENETIC research; NEUROBEHAVIORAL disorders
- Publication
European Journal of Neurology, 2009, Vol 16, Issue 7, p870
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/j.1468-1331.2009.02611.x