DQB1-0602 (DQw1) is not present in most nonDR2 Caucasian narcoleptics.
Human narcolepsy is a genetically determined disorder of sleep strongly associated with the human leucocyte antigens (HLA) DR2 and DQw1. In black narcoleptic patients, susceptibility for narcolepsy is more closely related to a specific gene subtype of DQw1, DQB1-0602, than to DR2. About 30% of black narcoleptic patients are nonDR2, but all carry the HLA DQB1-0602 gene. In the present study, we have tested caucasian nonDR2 cataplectic patients (6 sporadic cases and 7 familial cases from 3 multiplex families) for the presence of the HLA DQB1-0602 and DQA1-0102 (DQw1) using a specific polymerase chain reaction (PCR)-oligotyping technique. None of the patients was DQB1-0602 or DQA1-0102 positive, thus proving that, in caucasians, DQB1-0602 and DQA1-0102 (DQw1) are not prerequisites for the diagnosis of narcolepsy. Further studies with more patients are warranted to exclude the possibility that a few caucasian patients carry rare haplotypes with DQB1-0602 independently of DR2.
Mignot
E
E
Stanford University, School of Medicine, Sleep Disorders Center, Palo Alto, California 94304.
Lin
X
X
Kalil
J
J
George
C
C
Singh
S
S
Billiard
M
M
Montplaisir
J
J
Arrigoni
J
J
Guilleminault
C
C
Dement
W C
WC
D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002385:Cataplexy / Q000235:genetics; D002874:Chromosome Mapping; D015342:DNA Probes; D005819:Genetic Markers / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D015802:HLA-DR2 Antigen / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009290:Narcolepsy / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D044465:White People
D015342:DNA Probes; D005819:Genetic Markers; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; C051568:HLA-DQ1 antigen; C069050:HLA-DQA1 antigen; D015802:HLA-DR2 Antigen