Linkage analysis identified a region on chromosome 9p associated with Frontotemporal Lobar Degeneration (FTLD). A detailed analysis of candidate genes lying in this region demonstrated an association with Ubiquitin Associated Protein (UBAP)1. The distribution of five Single Nucleotide Polymorphisms (SNPs) located in the chromosome 9 haplotype identified via linkage analysis, including UBAP1 rs7018487, UBAP2 rs1785506 and rs307658, and KIF24 rs17350674 and rs10814083, has been determined in a population of 284 patients diagnosed with FTLD, including 245 with behavioural variant Frontotemporal Dementia (bvFTD), 23 with Progressive Aphasia and 16 with Semantic Dementia, compared with 318 age-matched controls. A statistically significant increased frequency of the KIF24 rs17350674 AA genotype was observed in patients compared with controls (7.4 versus 2.5%; P= 0.0068, OR: 3.63, CI: 1.58-8.35). Considering each syndrome separately, similar results where obtained in bvFTD versus controls (7.7 versus 2.5%, P= 0.005, OR: 3.26, CI: 1.40-7.57). Stratifying for gender, a statistically significant increased genotypic frequency was observed in female patients as compared with female controls (8.9 versus 2.5%, P= 0.008, OR: 3.85, CI: 1.36-10.93). In silico analysis predicted that the substitution from W to L caused by the rs17350674 affects protein function (P< 0.05). The KIF24 rs17350674 polymorphism likely acts as a risk factor for sporadic FTLD, but a replication study would be needed to confirm these preliminary findings. © 2010 Elsevier Ireland Ltd.

Venturelli, E., Villa, C., Fenoglio, C., Clerici, F., Marcone, A., Benussi, L., et al. (2010). Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?. NEUROSCIENCE LETTERS, 482(3), 240-244 [10.1016/j.neulet.2010.07.047].

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

Villa C.
Secondo
;
2010

Abstract

Linkage analysis identified a region on chromosome 9p associated with Frontotemporal Lobar Degeneration (FTLD). A detailed analysis of candidate genes lying in this region demonstrated an association with Ubiquitin Associated Protein (UBAP)1. The distribution of five Single Nucleotide Polymorphisms (SNPs) located in the chromosome 9 haplotype identified via linkage analysis, including UBAP1 rs7018487, UBAP2 rs1785506 and rs307658, and KIF24 rs17350674 and rs10814083, has been determined in a population of 284 patients diagnosed with FTLD, including 245 with behavioural variant Frontotemporal Dementia (bvFTD), 23 with Progressive Aphasia and 16 with Semantic Dementia, compared with 318 age-matched controls. A statistically significant increased frequency of the KIF24 rs17350674 AA genotype was observed in patients compared with controls (7.4 versus 2.5%; P= 0.0068, OR: 3.63, CI: 1.58-8.35). Considering each syndrome separately, similar results where obtained in bvFTD versus controls (7.7 versus 2.5%, P= 0.005, OR: 3.26, CI: 1.40-7.57). Stratifying for gender, a statistically significant increased genotypic frequency was observed in female patients as compared with female controls (8.9 versus 2.5%, P= 0.008, OR: 3.85, CI: 1.36-10.93). In silico analysis predicted that the substitution from W to L caused by the rs17350674 affects protein function (P< 0.05). The KIF24 rs17350674 polymorphism likely acts as a risk factor for sporadic FTLD, but a replication study would be needed to confirm these preliminary findings. © 2010 Elsevier Ireland Ltd.
Articolo in rivista - Articolo scientifico
Frontotemporal Dementia
Frontotemporal Lobar Degeneration (FTLD)
KIF24
Neurodegeneration
Polymorphism
Risk factor
UBAP1
Aged
Case-Control Studies
Female
Frontotemporal Lobar Degeneration
Genetic Predisposition to Disease
Genotype
Humans
Kinesin
Male
Polymorphism, Single Nucleotide
Risk Factors
English
240
244
5
Venturelli, E., Villa, C., Fenoglio, C., Clerici, F., Marcone, A., Benussi, L., et al. (2010). Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?. NEUROSCIENCE LETTERS, 482(3), 240-244 [10.1016/j.neulet.2010.07.047].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/281892
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