RGD Reference Report - Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). - Rat Genome Database

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Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).

Authors: Miyagawa, T  Honda, M  Kawashima, M  Shimada, M  Tanaka, S  Honda, Y  Tokunaga, K 
Citation: Miyagawa T, etal., PLoS One. 2009;4(4):e5394. Epub 2009 Apr 30.
RGD ID: 6483442
Pubmed: PMID:19404393   (View Abstract at PubMed)
PMCID: PMC2671172   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0005394   (Journal Full-text)

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) = 3.6x10(-3); OR = 1.56; 95% c.i.: 1.12-2.15) and HLA-DRB1*1501-DQB1*0602 haplotype (P(positivity) = 9.2x10(-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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
recurrent hypersomnia susceptibilityIAGP 6483442DNA:SNP: :rs5770917 (human)RGD 
recurrent hypersomnia susceptibilityISOCHKB (Homo sapiens)6483442; 6483442DNA:SNP: :rs5770917 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Chkb  (choline kinase beta)

Genes (Mus musculus)
Chkb  (choline kinase beta)

Genes (Homo sapiens)
CHKB  (choline kinase beta)


Additional Information