Source:http://linkedlifedata.com/resource/pubmed/id/10488740
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2000-1-31
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pubmed:abstractText |
Narcolepsy is a sleep disorder in which multiple factors, including environmental and genetic factors, are involved. A genetic factor strongly associated with the disorder has been found in the human leukocyte antigen (HLA) class II region: the haplotype, DRB1*1501-DQB1*0602, predisposes to narcolepsy. No susceptibility genes other than the HLA-haplotype have been found. In this paper, we performed an association study of the tumor necrosis factor-alpha (TNF-alpha) gene located in the HLA class III region with human narcolepsy, in which we examined the known single-nucleotide polymorphisms (SNPs) in the promoter region in 49 narcoleptic patients, who were all positive for DRBI*1501, and 111 healthy control individuals. The results indicated that the frequency of the genotype at position -857 (-857SNP) was significantly different between the patients and controls, and the allele frequencies of 857SNP revealed that the frequency of -857T was significantly increased in the patients as compared with that in the controls (P=0.0068). In addition, haplotypes presumed from HLA-DRB1, -857SNP and HLA-B loci suggested that -857T was mainly associated with DRB1 alleles other than DRB1*1501: the significant increase in frequency of -857T in the patients was not caused by allelic association with DRB1*1501. Therefore, it is conceivable that the TNF-alpha with 857T was associated with narcolepsy independently of the strong association of DRB1*1501 with the disorder. Altogether, the data presented here lead us to propose that TNF-alpha could be a new susceptibility gene in human narcolepsy.
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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 |
Aug
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pubmed:issn |
0001-2815
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
54
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
138-45
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:10488740-Alleles,
pubmed-meshheading:10488740-Female,
pubmed-meshheading:10488740-Histocompatibility Testing,
pubmed-meshheading:10488740-Humans,
pubmed-meshheading:10488740-Male,
pubmed-meshheading:10488740-Narcolepsy,
pubmed-meshheading:10488740-Nucleotides,
pubmed-meshheading:10488740-Polymerase Chain Reaction,
pubmed-meshheading:10488740-Polymorphism, Genetic,
pubmed-meshheading:10488740-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:10488740-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10488740-Promoter Regions, Genetic,
pubmed-meshheading:10488740-Tumor Necrosis Factor-alpha
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pubmed:year |
1999
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pubmed:articleTitle |
Significant association of a single nucleotide polymorphism in the tumor necrosis factor-alpha (TNF-alpha) gene promoter with human narcolepsy.
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pubmed:affiliation |
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Japan. hohjohh@m.tokyo.ac.jp
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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