title: DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and black Americans.
abstract: In the present study, we tested 19 Caucasian and 28 Black American narcoleptics for the presence of the human leucocyte antigen (HLA) DQB1*0602 and DQA1*0102 (DQ1) genes using a specific polymerase chain reaction (PCR)-oligotyping technique. A similar technique was also used to identify DRB1*1501 and DRB1*1503 (DR2). Results indicate that all but one Caucasian patient (previously identified) were DRB1*1501 (DR2) and DQB1*0602/DQA1*102 (DQ1) positive. In Black Americans, however, DRB1*1501 (DR2) was a poor marker for narcolepsy. Only 75% of patients were DR2 positive, most of them being DRB1*1503, but not DRB1*1501 positive. DQB1*0602 was found in all but one Black narcoleptic patient. The clinical and polygraphic results for this patient were typical, thus confirming the existence of a rare, but genuine form of DQB1*0602 negative narcolepsy. These results demonstrate that DQB1*0602/DQA1*0102 is the best marker for narcolepsy across all ethnic groups.
authors.affiliation: Stanford University, School of Medicine, Sleep Disorders Center, Palo Alto, California.
authors.forename: E
authors.initials: E
authors.lastname: Mignot
authors.forename: X
authors.initials: X
authors.lastname: Lin
authors.forename: J
authors.initials: J
authors.lastname: Arrigoni
authors.forename: C
authors.initials: C
authors.lastname: Macaubas
authors.forename: F
authors.initials: F
authors.lastname: Olive
authors.forename: J
authors.initials: J
authors.lastname: Hallmayer
authors.forename: P
authors.initials: P
authors.lastname: Underhill
authors.forename: C
authors.initials: C
authors.lastname: Guilleminault
authors.forename: W C
authors.initials: WC
authors.lastname: Dement
authors.forename: F C
authors.initials: FC
authors.lastname: Grumet
mesh_terms: D044383:Black People / Q000235:genetics*; D002375:Catalepsy / Q000235:genetics; D005190:Family; D006683:HLA-DQ Antigens / Q000097:blood / Q000235:genetics*; D006684:HLA-DR Antigens / Q000097:blood / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D009290:Narcolepsy / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012895:Sleep, REM; D014481:United States; D044465:White People / Q000235:genetics*; D001741:Black or African American
chemical_list: D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens