Source:http://linkedlifedata.com/resource/pubmed/id/19020798
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11-12
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pubmed:dateCreated |
2008-12-5
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pubmed:abstractText |
Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disorder characterized by behavioral and language disturbances. We performed a case-control association study in the Italian population to assess the relevance for FTLD genetic susceptibility of the serotonin (5-HT) transporter gene-linked polymorphic region [rs4795541, alias short (S)/long (L)] an in/del polymorphism of the promoter region of the gene coding for the 5-HT transporter (SLC6A4). This functional polymorphism was reported to influence the SLC6A4 transcription rate, with the S-allele having a two-fold reduced efficiency. We collected 225 independent subjects (74 sporadic FTLD and 151 age-matched healthy controls, CT) that were genotyped for the rs4795541, the SLC6A4 single nucleotide polymorphisms (SNP) rs25531 and rs6354, and the apolipoprotein E (APOE) allelic variants. A significant correlation [P = 0.018, OR (95% CI): 2.1 (1.1-3.9)] between rs4795541 S-allele presence and FTLD susceptibility was found. In summary, the rs4795541 might be important for FTLD susceptibility in the Italian population.
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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:issn |
1434-5161
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pubmed:author |
pubmed-author:AlbaniDiegoD,
pubmed-author:BatelliSaraS,
pubmed-author:De MauroStefaniaS,
pubmed-author:DusiSabrinaS,
pubmed-author:FenoglioChiaraC,
pubmed-author:ForloniGianluigiG,
pubmed-author:GalimbertiDanielaD,
pubmed-author:LovatiCarloC,
pubmed-author:MarianiClaudioC,
pubmed-author:PolitoLetiziaL,
pubmed-author:PratoFrancescaF,
pubmed-author:ScarpiniElioE
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pubmed:issnType |
Print
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1029-33
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pubmed:meshHeading |
pubmed-meshheading:19020798-Aged,
pubmed-meshheading:19020798-Apolipoproteins E,
pubmed-meshheading:19020798-Case-Control Studies,
pubmed-meshheading:19020798-Dementia,
pubmed-meshheading:19020798-Female,
pubmed-meshheading:19020798-Genetic Predisposition to Disease,
pubmed-meshheading:19020798-Genotype,
pubmed-meshheading:19020798-Humans,
pubmed-meshheading:19020798-Italy,
pubmed-meshheading:19020798-Male,
pubmed-meshheading:19020798-Polymorphism, Single Nucleotide,
pubmed-meshheading:19020798-Promoter Regions, Genetic,
pubmed-meshheading:19020798-Serotonin Plasma Membrane Transport Proteins
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pubmed:year |
2008
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pubmed:articleTitle |
Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy.
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pubmed:affiliation |
Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156 Milan, Italy. albani@marionegri.it
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Evaluation Studies
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