FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration

JOURNAL OF ALZHEIMERS DISEASE(2010)

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摘要
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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关键词
Frontotemporal lobar degeneration (FTLD),fused in sarcoma/translated in liposarcoma (FUS/TLS),polymorphism,risk factor,variability
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