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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2010-8-30
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pubmed:abstractText |
Narcolepsy is a rare sleep disorder with the strongest human leukocyte antigen (HLA) association ever reported. Since the associated HLA-DRB1*1501-DQB1*0602 haplotype is common in the general population (15-25%), it has been suggested that it is almost necessary but not sufficient for developing narcolepsy. To further define the genetic basis of narcolepsy risk, we performed a genome-wide association study (GWAS) in 562 European individuals with narcolepsy (cases) and 702 ethnically matched controls, with independent replication in 370 cases and 495 controls, all heterozygous for DRB1*1501-DQB1*0602. We found association with a protective variant near HLA-DQA2 (rs2858884; P < 3 x 10(-8)). Further analysis revealed that rs2858884 is strongly linked to DRB1*03-DQB1*02 (P < 4 x 10(-43)) and DRB1*1301-DQB1*0603 (P < 3 x 10(-7)). Cases almost never carried a trans DRB1*1301-DQB1*0603 haplotype (odds ratio = 0.02; P < 6 x 10(-14)). This unexpected protective HLA haplotype suggests a virtually causal involvement of the HLA region in narcolepsy susceptibility.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1546-1718
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pubmed:author |
pubmed-author:ArnulfIsabelleI,
pubmed-author:BürkiJulie VienneJV,
pubmed-author:BassettiClaudioC,
pubmed-author:BeckmannJacques SJS,
pubmed-author:BenetóAntonioA,
pubmed-author:BergmannSvenS,
pubmed-author:BilliardMichelM,
pubmed-author:ClaasFrans H JFH,
pubmed-author:DauvilliersYvesY,
pubmed-author:DidelotGérardG,
pubmed-author:DonjacourClaire E H MCE,
pubmed-author:ErcillaGuadalupeG,
pubmed-author:GeislerPeterP,
pubmed-author:HeinzerRaphaëlR,
pubmed-author:HorHyunH,
pubmed-author:IranzoAlexA,
pubmed-author:JennumPoulP,
pubmed-author:KnudsenStineS,
pubmed-author:KutalikZoltánZ,
pubmed-author:LammersGert JGJ,
pubmed-author:LecendreuxMichelM,
pubmed-author:MathisJohannesJ,
pubmed-author:MayerGeertG,
pubmed-author:MooserVincentV,
pubmed-author:OvereemSebastiaanS,
pubmed-author:Peraita AdradosRosaR,
pubmed-author:PetitBriceB,
pubmed-author:PfisterCorinneC,
pubmed-author:SantamariaJoanJ,
pubmed-author:TaftiMehdiM,
pubmed-author:TheodorouIoannisI,
pubmed-author:ValsesiaArmandA,
pubmed-author:VerduijnWillemW,
pubmed-author:VicarioJosé LJL,
pubmed-author:VollenweiderPeterP,
pubmed-author:VollenwiderPeterP,
pubmed-author:WaeberGerardG,
pubmed-author:WaterworthDawn MDM
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pubmed:issnType |
Electronic
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
786-9
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pubmed:dateRevised |
2011-5-14
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pubmed:meshHeading |
pubmed-meshheading:20711174-Adult,
pubmed-meshheading:20711174-Aged,
pubmed-meshheading:20711174-Case-Control Studies,
pubmed-meshheading:20711174-European Continental Ancestry Group,
pubmed-meshheading:20711174-Female,
pubmed-meshheading:20711174-Gene Frequency,
pubmed-meshheading:20711174-Genetic Predisposition to Disease,
pubmed-meshheading:20711174-Genome-Wide Association Study,
pubmed-meshheading:20711174-HLA-D Antigens,
pubmed-meshheading:20711174-Haplotypes,
pubmed-meshheading:20711174-Humans,
pubmed-meshheading:20711174-Male,
pubmed-meshheading:20711174-Middle Aged,
pubmed-meshheading:20711174-Narcolepsy
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pubmed:year |
2010
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pubmed:articleTitle |
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.
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pubmed:affiliation |
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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