Background: Narcolepsy is an uncommon neurological disorder characterised by irresistible spells of sleep associated with abnormal rapid eye movement (REM) sleep. The association between narcolepsy and human leukocyte antigen HLA- DQB1*06:02 has been established elsewhere but remains to be investigated among Saudi Arabian patients with narcolepsy.
Methods: A total of 29 Saudi patients with type I or type 2 narcolepsy comprising of 23 (79%) males and 6 (21%) females with a mean age of 17.2 ± 9.6 years were included in this study. Type 1 or type 2 narcolepsy was diagnosed by full polysomnography followed by a multiple sleep latency test in accordance with International Classifications of Sleep Disorders-3 criteria. HLA typing for DQB1 alleles was performed by polymerase chain reaction and hybridization with sequence-specific oligonucleotide probes. Differences in clinical and sleep parameters were compared by univariable analyses. HLA-DQB1*06:02 frequency was systematically compared with the published literature.
Results: Type 1 narcolepsy was diagnosed in 19/29 (65.5%) patients, whereas 10/29 (34.5%) patients had type 2 narcolepsy. DQB1*06:02 was present in 25/29 (86.2%) patients; 15/19 (78.9%) narcolepsy type 1 patients and 10/10 (100%) narcolepsy type 2 patients harboured the DQB1*06:02 allele. REM latency was significantly lower in DQB1*06:02-positive patients compared to DQB1*06:02-negative patients (17.6 ± 32.3 min vs. 106.0 ± 86.0 min; p = 0.025). Epworth Sleepiness Scale scores were significantly higher among type 1 than type 2 narcolepsy patients (19.7 ± 3.2 vs 15.3 ± 3.6; p = 0.02).
Conclusions: DQB1*06:02 allele frequencies among Saudi patients with narcolepsy were consistent with previously published data.
Keywords: Autoimmune disease, DQB1*06:02; Haplotype; Hypersomnia; Sleep; Sleep studies.