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 / C. Cantoni, C. Fenoglio, F. Cortini, E. Venturelli, C. Villa, F. Clerici, A. Marcone, L. Benussi, R. Ghidoni, S. Gallone, S. Scalabrini, M. Franceschi, S. Cappa, G. Binetti, C. Mariani, I. Rainero, M.T. Giordana, N. Bresolin, E. Scarpini, D. Galimberti. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 19:4(2010), pp. 1317-1322. [10.3233/JAD-2010-1328]
FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration
C. Fenoglio;C. Mariani;N. Bresolin;E. Scarpini;D. Galimberti
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.
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