title: Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
abstract: 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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy.
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. miyagawa-taku@umin.ac.jp
authors.forename: Taku
authors.initials: T
authors.lastname: Miyagawa
authors.forename: Makoto
authors.initials: M
authors.lastname: Honda
authors.forename: Minae
authors.initials: M
authors.lastname: Kawashima
authors.forename: Mihoko
authors.initials: M
authors.lastname: Shimada
authors.forename: Susumu
authors.initials: S
authors.lastname: Tanaka
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Honda
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
mesh_terms: D044466:Asian People; D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics*; D016022:Case-Control Studies; D002797:Choline Kinase / Q000235:genetics*; D006970:Disorders of Excessive Somnolence / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D008562:Membrane Glycoproteins; C542591:CPT1B protein, human; D002334:Carnitine O-Palmitoyltransferase; C542592:CHKB protein, human; D002797:Choline Kinase