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Narcolepsy without cataplexy (NA w/o CA) (narcolepsy type 2) is a lifelong disorder characterized by excessive daytime sleepiness and rapid eye movement (REM) sleep abnormalities, but no cataplexy. In the present study, we examined the human leukocyte antigen  HLA-DQB1  in 160 Japanese patients with NA w/o CA and 1,418 control subjects. Frequencies of  DQB1*06:02  were significantly higher in patients with NA w/o CA compared with controls (allele frequency: 16.6 vs. 7.8%,  P =1.1×10 −7 , odds ratio (OR)=2.36; carrier frequency: 31.3 vs. 14.7%,  P =7.6×10 −8 , OR=2.64). Distributions of  HLA-DQB1  alleles other than  DQB1*06:02  were compared between NA w/o CA and narcolepsy with cataplexy (NA-CA) to assess whether the genetic backgrounds of the two diseases have similarities. The distribution of the  HLA-DQB1  alleles in  DQB1*06:02 -negative NA w/o CA was significantly different from that in NA-CA ( P =5.8×10 −7 ). On the other hand, the patterns of the  HLA-DQB1  alleles were similar between  DQB1*06:02 -positive NA w/o CA and NA-CA.  HLA-DQB1  analysis was also performed in 186 Japanese patients with idiopathic hypersomnia (IHS) with/without long sleep time, but no significant associations were observed.

An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population