FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration.
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.
Cantoni
Claudia
C
Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy.
Fenoglio
Chiara
C
Cortini
Francesca
F
Venturelli
Eliana
E
Villa
Chiara
C
Clerici
Francesca
F
Marcone
Alessandra
A
Benussi
Luisa
L
Ghidoni
Roberta
R
Gallone
Salvatore
S
Scalabrini
Diego
D
Franceschi
Massimo
M
Cappa
Stefano
S
Binetti
Giuliano
G
Mariani
Claudio
C
Rainero
Innocenzo
I
Giordana
Maria Teresa
MT
Bresolin
Nereo
N
Scarpini
Elio
E
Galimberti
Daniela
D
D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D012307:Risk Factors
D034702:RNA-Binding Protein FUS