| Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration? | |
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MedLine Citation:
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PMID: 20670673 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Eliana Venturelli; Chiara Villa; Chiara Fenoglio; Francesca Clerici; Alessandra Marcone; Luisa Benussi; Roberta Ghidoni; Salvatore Gallone; Diego Scalabrini; Francesca Cortini; Giorgio Fumagalli; Stefano Cappa; Giuliano Binetti; Massimo Franceschi; Innocenzo Rainero; Maria Teresa Giordana; Claudio Mariani; Nereo Bresolin; Elio Scarpini; Daniela Galimberti |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-07-27 |
Journal Detail:
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Title: Neuroscience letters Volume: 482 ISSN: 1872-7972 ISO Abbreviation: Neurosci. Lett. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-08-26 Completed Date: 2010-12-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7600130 Medline TA: Neurosci Lett Country: Ireland |
Other Details:
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Languages: eng Pagination: 240-4 Citation Subset: IM |
Copyright Information:
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(c) 2010 Elsevier Ireland Ltd. All rights reserved. |
Affiliation:
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Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Case-Control Studies Female Frontotemporal Lobar Degeneration / genetics* Genetic Predisposition to Disease / genetics* Genotype Humans Kinesin / genetics* Male Polymorphism, Single Nucleotide Risk Factors |
| Chemical | |
Reg. No./Substance:
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EC 3.6.1.-/Kinesin |
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