TY - JOUR
T1 - FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration
AU - Cantoni, Claudia
AU - Fenoglio, Chiara
AU - Cortini, Francesca
AU - Venturelli, Eliana
AU - Villa, Chiara
AU - Clerici, Francesca
AU - Marcone, Alessandra
AU - Benussi, Luisa
AU - Ghidoni, Roberta
AU - Gallone, Salvatore
AU - Scalabrini, Diego
AU - Franceschi, Massimo
AU - Cappa, Stefano
AU - Binetti, Giuliano
AU - Mariani, Claudio
AU - Rainero, Innocenzo
AU - Giordana, Maria Teresa
AU - Bresolin, Nereo
AU - Scarpini, Elio
AU - Galimberti, Daniela
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
KW - Frontotemporal lobar degeneration (FTLD)
KW - Fused in sarcoma/translated in liposarcoma (FUS/TLS)
KW - Polymorphism
KW - Risk factor
KW - Variability
UR - https://www.scopus.com/pages/publications/77950352212
U2 - 10.3233/JAD-2010-1328
DO - 10.3233/JAD-2010-1328
M3 - Article
C2 - 20061612
AN - SCOPUS:77950352212
SN - 1387-2877
VL - 19
SP - 1317
EP - 1322
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
IS - 4
ER -