Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)

BACKGROUND: SNP rs5770917 located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype were previously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether these genetic markers are associated with Japanese CNS hypersomnia...

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Autores principales: Miyagawa, Taku, Honda, Makoto, Kawashima, Minae, Shimada, Mihoko, Tanaka, Susumu, Honda, Yutaka, Tokunaga, Katsushi
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
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Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671172/
https://www.ncbi.nlm.nih.gov/pubmed/19404393
http://dx.doi.org/10.1371/journal.pone.0005394
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author Miyagawa, Taku
Honda, Makoto
Kawashima, Minae
Shimada, Mihoko
Tanaka, Susumu
Honda, Yutaka
Tokunaga, Katsushi
author_facet Miyagawa, Taku
Honda, Makoto
Kawashima, Minae
Shimada, Mihoko
Tanaka, Susumu
Honda, Yutaka
Tokunaga, Katsushi
author_sort Miyagawa, Taku
collection PubMed
description BACKGROUND: SNP rs5770917 located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype were previously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether these genetic markers are associated with Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy. PRINCIPAL FINDINGS: EHS was significantly associated with SNP rs5770917 (P(allele) = 3.6×10(−3); OR = 1.56; 95% c.i.: 1.12–2.15) and HLA-DRB1*1501-DQB1*0602 haplotype (P (positivity) = 9.2×10(−11); OR = 3.97; 95% c.i.: 2.55–6.19). No interaction between the two markers (SNP rs5770917 and HLA-DRB1*1501-DQB1*0602 haplotype) was observed in EHS. CONCLUSION: CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy.
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spelling pubmed-26711722009-04-30 Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia) Miyagawa, Taku Honda, Makoto Kawashima, Minae Shimada, Mihoko Tanaka, Susumu Honda, Yutaka Tokunaga, Katsushi PLoS One Research Article BACKGROUND: SNP rs5770917 located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype were previously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether these genetic markers are associated with Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy. PRINCIPAL FINDINGS: EHS was significantly associated with SNP rs5770917 (P(allele) = 3.6×10(−3); OR = 1.56; 95% c.i.: 1.12–2.15) and HLA-DRB1*1501-DQB1*0602 haplotype (P (positivity) = 9.2×10(−11); OR = 3.97; 95% c.i.: 2.55–6.19). No interaction between the two markers (SNP rs5770917 and HLA-DRB1*1501-DQB1*0602 haplotype) was observed in EHS. CONCLUSION: CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy. Public Library of Science 2009-04-30 /pmc/articles/PMC2671172/ /pubmed/19404393 http://dx.doi.org/10.1371/journal.pone.0005394 Text en Miyagawa et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Miyagawa, Taku
Honda, Makoto
Kawashima, Minae
Shimada, Mihoko
Tanaka, Susumu
Honda, Yutaka
Tokunaga, Katsushi
Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)
title Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)
title_full Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)
title_fullStr Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)
title_full_unstemmed Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)
title_short Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)
title_sort polymorphism located between cpt1b and chkb, and hla-drb1*1501-dqb1*0602 haplotype confer susceptibility to cns hypersomnias (essential hypersomnia)
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671172/
https://www.ncbi.nlm.nih.gov/pubmed/19404393
http://dx.doi.org/10.1371/journal.pone.0005394
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