Source:http://linkedlifedata.com/resource/pubmed/id/20670673
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
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| pubmed:dateCreated |
2010-8-26
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| pubmed:abstractText |
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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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Oct
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| pubmed:issn |
1872-7972
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| pubmed:author |
pubmed-author:BenussiLuisaL,
pubmed-author:BinettiGiulianoG,
pubmed-author:BresolinNereoN,
pubmed-author:CappaStefanoS,
pubmed-author:ClericiFrancescaF,
pubmed-author:CortiniFrancescaF,
pubmed-author:FenoglioChiaraC,
pubmed-author:FranceschiMassimoM,
pubmed-author:FumagalliGiorgioG,
pubmed-author:GalimbertiDanielaD,
pubmed-author:GalloneSalvatoreS,
pubmed-author:GhidoniRobertaR,
pubmed-author:GiordanaMaria TeresaMT,
pubmed-author:MarconeAlessandraA,
pubmed-author:MarianiClaudioC,
pubmed-author:RaineroInnocenzoI,
pubmed-author:ScalabriniDiegoD,
pubmed-author:ScarpiniElioE,
pubmed-author:VenturelliElianaE,
pubmed-author:VillaChiaraC
|
| pubmed:copyrightInfo |
(c) 2010 Elsevier Ireland Ltd. All rights reserved.
|
| pubmed:issnType |
Electronic
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| pubmed:day |
4
|
| pubmed:volume |
482
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
240-4
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| pubmed:meshHeading |
pubmed-meshheading:20670673-Aged,
pubmed-meshheading:20670673-Case-Control Studies,
pubmed-meshheading:20670673-Female,
pubmed-meshheading:20670673-Frontotemporal Lobar Degeneration,
pubmed-meshheading:20670673-Genetic Predisposition to Disease,
pubmed-meshheading:20670673-Genotype,
pubmed-meshheading:20670673-Humans,
pubmed-meshheading:20670673-Kinesin,
pubmed-meshheading:20670673-Male,
pubmed-meshheading:20670673-Polymorphism, Single Nucleotide,
pubmed-meshheading:20670673-Risk Factors
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| pubmed:year |
2010
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| pubmed:articleTitle |
Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?
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| pubmed:affiliation |
Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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