Data di Pubblicazione:
2010
Citazione:
GRN variability contributes to sporadic frontotemporal lobar degeneration / D. Galimberti, C. Fenoglio, F. Cortini, M. Serpente, E. Venturelli, C. Villa, F. Clerici, A. Marcone, L. Benussi, R. Ghidoni, S. Gallone, D. Scalabrini, I. Restelli, F. M. Boneschi, S. Cappa, G. Binetti, C. Mariani, I. Rainero, M.T. Giordana, N. Bresolin, E. Scarpini. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 19:1(2010), pp. 171-177. [10.3233/JAD-2010-1225]
Abstract:
Mutations in the progranulin gene (GRN) are responsible for familial FTLD with ubiquitin pathology (FTLD-U). However, there are controversial data regarding the contribution of GRN variability to sporadic FTLD. We carried out an association study in 265 patients, who did not carry a GRN causal mutation, and 375 age-matched controls. Four tagging Single Nucleotide Polymorphisms (SNPs) were chosen generate 80% power to detect an allelic association with P ≤ 0.01. In addition, a known functional SNP (rs5848) was included. An increased frequency of the rs4792938 CC genotype in cases compared with controls was observed (17.4 versus 10.4%, P=0.01, OR: 1.81, 95%CI: 1.15-2.85). Stratifying for gender, no differences were observed for all polymorphisms. Haplotype analysis failed to detect haplotypes associated with the disease. Our findings indicate that the GRN rs4792938 CC genotype represents a susceptibility factor for the development of FTLD in individuals who do not carry GRN causal mutations. This SNP is likely located in a regulatory region, thus an effect on GRN mRNA levels may be of mechanistic importance.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Frontotemporal Lobar Degeneration (FTLD); Polymorphism; Progranulin (GRN); Risk factor; Variability
Elenco autori:
D. Galimberti, C. Fenoglio, F. Cortini, M. Serpente, E. Venturelli, C. Villa, F. Clerici, A. Marcone, L. Benussi, R. Ghidoni, S. Gallone, D. Scalabrini, I. Restelli, F.M. Boneschi, S. Cappa, G. Binetti, C. Mariani, I. Rainero, M.T. Giordana, N. Bresolin, E. Scarpini
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