FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration

Claudia Cantoni; Chiara Fenoglio; Francesca Cortini; Eliana Venturelli; Chiara Villa; Francesca Clerici; Alessandra Marcone; Luisa Benussi; Roberta Ghidoni; Salvatore Gallone; Diego Scalabrini; Massimo Franceschi; Stefano Cappa; Giuliano Binetti; Claudio Mariani; Innocenzo Rainero; Maria Teresa Giordana; Nereo Bresolin; Elio Scarpini; Daniela Galimberti

doi:10.3233/JAD-2010-1328

FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration

Claudia Cantoni, Chiara Fenoglio, Francesca Cortini, Eliana Venturelli, Chiara Villa, Francesca Clerici, Alessandra Marcone, Luisa Benussi, Roberta Ghidoni, Salvatore Gallone, Diego Scalabrini, Massimo Franceschi, Stefano Cappa, Giuliano Binetti, Claudio Mariani, Innocenzo Rainero, Maria Teresa Giordana, Nereo Bresolin, Elio Scarpini, Daniela Galimberti

Section of Multiple Sclerosis & Neuroimmunology

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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.

Original language	English
Pages (from-to)	1317-1322
Number of pages	6
Journal	Journal of Alzheimer's Disease
Volume	19
Issue number	4
DOIs	https://doi.org/10.3233/JAD-2010-1328
State	Published - 2010

Keywords

Frontotemporal lobar degeneration (FTLD)
Fused in sarcoma/translated in liposarcoma (FUS/TLS)
Polymorphism
Risk factor
Variability

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10.3233/JAD-2010-1328

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Cantoni, C., Fenoglio, C., Cortini, F., Venturelli, E., Villa, C., Clerici, F., Marcone, A., Benussi, L., Ghidoni, R., Gallone, S., Scalabrini, D., Franceschi, M., Cappa, S., Binetti, G., Mariani, C., Rainero, I., Giordana, M. T., Bresolin, N., Scarpini, E., & Galimberti, D. (2010). FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration. Journal of Alzheimer's Disease, 19(4), 1317-1322. https://doi.org/10.3233/JAD-2010-1328

@article{234c488361f14a288cd3b7b1489812eb,

title = "FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration",

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.",

keywords = "Frontotemporal lobar degeneration (FTLD), Fused in sarcoma/translated in liposarcoma (FUS/TLS), Polymorphism, Risk factor, Variability",

author = "Claudia Cantoni and Chiara Fenoglio and Francesca Cortini and Eliana Venturelli and Chiara Villa and Francesca Clerici and Alessandra Marcone and Luisa Benussi and Roberta Ghidoni and Salvatore Gallone and Diego Scalabrini and Massimo Franceschi and Stefano Cappa and Giuliano Binetti and Claudio Mariani and Innocenzo Rainero and Giordana, {Maria Teresa} and Nereo Bresolin and Elio Scarpini and Daniela Galimberti",

year = "2010",

doi = "10.3233/JAD-2010-1328",

language = "English",

volume = "19",

pages = "1317--1322",

journal = "Journal of Alzheimer's Disease",

issn = "1387-2877",

number = "4",

}

Cantoni, C, Fenoglio, C, Cortini, F, Venturelli, E, Villa, C, Clerici, F, Marcone, A, Benussi, L, Ghidoni, R, Gallone, S, Scalabrini, D, Franceschi, M, Cappa, S, Binetti, G, Mariani, C, Rainero, I, Giordana, MT, Bresolin, N, Scarpini, E & Galimberti, D 2010, 'FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration', Journal of Alzheimer's Disease, vol. 19, no. 4, pp. 1317-1322. https://doi.org/10.3233/JAD-2010-1328

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

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U2 - 10.3233/JAD-2010-1328

DO - 10.3233/JAD-2010-1328

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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 -

FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration

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