Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS). Only patients negative for GRN mutations were included. Considering each SNP alone, no differences in either allelic or genotypic frequencies between patients and controls were found (P > 0.05), even stratifying according to gender or the presence of concomitant motor neuron disease. Haplotype analysis failed to detect haplotypes associated with FTLD. According to these results, FUS/TLS is not a susceptibility factor for the development of sporadic FTLD. © 2010-IOS Press and the authors. All rights reserved.

Cantoni, C., Fenoglio, C., Cortini, F., Venturelli, E., Villa, C., Clerici, F., et al. (2010). FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration. JOURNAL OF ALZHEIMER'S DISEASE, 19(4), 1317-1322 [10.3233/JAD-2010-1328].

FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration

Villa C.;
2010

Abstract

Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS). Only patients negative for GRN mutations were included. Considering each SNP alone, no differences in either allelic or genotypic frequencies between patients and controls were found (P > 0.05), even stratifying according to gender or the presence of concomitant motor neuron disease. Haplotype analysis failed to detect haplotypes associated with FTLD. According to these results, FUS/TLS is not a susceptibility factor for the development of sporadic FTLD. © 2010-IOS Press and the authors. All rights reserved.
Articolo in rivista - Articolo scientifico
Frontotemporal lobar degeneration (FTLD)
Fused in sarcoma/translated in liposarcoma (FUS/TLS)
Polymorphism
Risk factor
Variability
Female
Frontotemporal Lobar Degeneration
Genetic Variation
Humans
Male
RNA-Binding Protein FUS
Risk Factors
English
1317
1322
6
Cantoni, C., Fenoglio, C., Cortini, F., Venturelli, E., Villa, C., Clerici, F., et al. (2010). FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration. JOURNAL OF ALZHEIMER'S DISEASE, 19(4), 1317-1322 [10.3233/JAD-2010-1328].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/281896
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