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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.