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.

FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration

RAINERO, Innocenzo;GIORDANA, Maria Teresa;
2010-01-01

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
19
4
1317
1322
FUS/TLS; FTLD
Cantoni C; Fenoglio C; Cortini F; Venturelli E; Villa C; Clerici F; Marcone A; Benussi L; Ghidoni R; Gallone S; Scalabrini D; Franceschi M; Cappa S; Binetti G; Mariani C; Rainero I; Giordana MT; Bresolin N; Scarpini E; Galimberti D
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/73600
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