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

2015; Springer Nature; Volume: 2; Issue: 1 Linguagem: Inglês

10.1038/hgv.2015.31

2054-345X

Taku Miyagawa, Hiromi Toyoda, Takashi Kanbayashi, Aya Imanishi, Yohei Sagawa, Nozomu Kotorii, Tatayu Kotorii, Yuji Hashizume, Kimihiro Ogi, Hiroshi Hiejima, Yuichi Kamei, Akiko Hida, Masayuki Miyamoto, Azusa Ikegami, Yamato Wada, Masanori Takami, Yota Fujimura, Yoshiyuki Tamura, Naoto Omata, Yasuhiro Masuya, Hideaki Kondo, Shunpei Moriya, Hirokazu Furuya, Mitsuhiro Kato, Hiroto Kojima, Koichi Kashiwase, Hiroh Saji, Seik‐Soon Khor, Maria Yamasaki, Jun Ishigooka, Yuji Wada, Shigeru Chiba, Naoto Yamada, Masako Okawa, Kenji Kuroda, Kazuhiko Kume, Koichi Hirata, Naohisa Uchimura, Tetsuo Shimizu, Yuichi Inoue, Yutaka Honda, Kazuo Mishima, Makoto Honda, Katsushi Tokunaga,

Circadian rhythm and melatonin

Abstract 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.