Polymorphism Located between CPT1B and CHKB, and HLA-DRB11501-DQB10602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia) 英文参考文献.docVIP

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Polymorphism Located between CPT1B and CHKB, and HLA-DRB11501-DQB10602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia) 英文参考文献.doc

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Polymorphism Located between CPT1B and CHKB, and HLA-DRB11501-DQB10602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia) 英文参考文献

PolymorphismLocatedbetweenCPT1BandCHKB,and HLA-DRB1*1501-DQB1*0602HaplotypeConfer SusceptibilitytoCNSHypersomnias(Essential Hypersomnia) TakuMiyagawa1*,MakotoHonda2,3,MinaeKawashima1,4,MihokoShimada1,SusumuTanaka2 ,Yutaka Honda3,KatsushiTokunaga1 1Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2The Sleep Disorders Research Project, Tokyo Institute of Psychiatry,Tokyo,Japan,3JapanSomnologyCenter,NeuropsychiatricResearchInstitute,Tokyo,Japan,4CenterforNarcolepsy,StanfordUniversitySchoolofMedicine, PaloAlto,California,UnitedStatesofAmerica Abstract Background:SNPrs5770917locatedbetweenCPT1BandCHKB,andHLA-DRB1*1501-DQB1*0602haplotypewerepreviously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether thesegeneticmarkersareassociatedwithJapaneseCNShypersomnias(essentialhypersomnia:EHS)otherthannarcolepsy withcataplexy. PrincipalFindings:EHSwassignificantlyassociatedwithSNPrs5770917(Pallele=3.661023;OR=1.56;95%c.i.:1.12–2.15) andHLA-DRB1*1501-DQB1*0602haplotype(Ppositivity=9.2610211;OR=3.97;95%c.i.:2.55–6.19).Nointeractionbetweenthe twomarkers(SNPrs5770917andHLA-DRB1*1501-DQB1*0602haplotype)wasobservedinEHS. Conclusion:CPT1B,CHKBandHLAarecandidatesforsusceptibilitytoCNShypersomnias(EHS),aswellasnarcolepsywith cataplexy. Citation: Miyagawa T, Honda M, Kawashima M, Shimada M, Tanaka S, et al. (2009) Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501- DQB1*0602HaplotypeConferSusceptibilitytoCNSHypersomnias(EssentialHypersomnia).PLoSONE4(4):e5394.doi:10.1371/journal.pone.0005394 Editor:DavidC.Rubinsztein,UniversityofCambridge,UnitedKingdom ReceivedFebruary19,2009;AcceptedMarch31,2009;PublishedApril30,2009 Copyright: ? 2009 Miyagawa et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcea