title: Prevalence of the HLA-DQB1*0602 allele in narcolepsy and idiopathic hypersomnia patients seen at a sleep disorders outpatient unit in São Paulo.
abstract: OBJECTIVE
  Narcolepsy (with and without cataplexy) and idiopathic hypersomnia, are disorders with common features but with different HLA-DQB1*0602 allele prevalence. The present study describes the prevalence of HLA-DQB1*0602 allele in narcoleptics with and without cataplexy and in patients with idiopathic hypersomnia.
  
  
  METHODS
  Subjects comprised 68 patients who were diagnosed for narcolepsy or idiopathic hypersomnia and 23 healthy controls according to the International Classification of Sleep Disorders-2. Subjects comprised 43 patients with narcolepsy and cataplexy, 11 patients with narcolepsy but without cataplexy, 14 patients with idiopathic hypersomnia and 23 healthy controls. Genotyping of HLA-DQB1*0602 allele was performed for all subjects.
  
  
  RESULTS
  The prevalence of the HLA-DQB1*0602 allele was increased in idiopathic hypersomnia and in narcoleptic patients with and without cataplexy when compared to healthy subjects (p = 0.04; p = 0.03 and p < 0.0001, respectively).
  
  
  CONCLUSIONS
  This finding is in accordance with those of previous studies. The gold standard exam of narcolepsy with cataplexy is Hypocretin-1 dosage, but in patients without cataplexy and idiopathic hypersomnia, there are no specific diagnostic lab findings. The presence of the HLA-DQB1* 0602 allele may be important for the differential diagnosis of situations that resemble those sleep disorders such as secondary changes in sleep structure due to drugs' consumption.
authors.affiliation: Psychobiology Department, Universidade Federal de São Paulo, São Paulo, SP, Brazil. fernandomorgadinho@hotmail.com
authors.forename: Fernando Morgadinho Santos
authors.initials: FM
authors.lastname: Coelho
authors.forename: Márcia
authors.initials: M
authors.lastname: Pradella-Hallinan
authors.forename: Mario
authors.initials: M
authors.lastname: Predazzoli Neto
authors.forename: Lia Rita Azeredo
authors.initials: LR
authors.lastname: Bittencourt
authors.forename: Sérgio
authors.initials: S
authors.lastname: Tufik
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001938:Brazil; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006801:Humans; D020177:Idiopathic Hypersomnia / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009290:Narcolepsy / Q000175:diagnosis* / Q000235:genetics*; D018709:Statistics, Nonparametric; D055815:Young Adult
chemical_list: D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D008562:Membrane Glycoproteins