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2010 Miyagawa T; TCRA Convertir en PDF 

Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype

Taku Miyagawa, Makoto Honda, Minae Kawashima1, Mihoko Shimada, Susumu Tanaka, Yutaka Honda and Katsushi Tokunaga

Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan



Résumé en anglais

Essential hypersomnia (EHS) exhibits excessive daytime sleepiness without cataplexy and is associated with the HLA-DRB1*1501-DQB1*0602 haplotype, similar to narcolepsy with cataplexy. Single-nucleotide polymorphism (SNP) rs1154155 located in the T-cell receptor a (TCRA) locus has been recently identified as a novel genetic marker of susceptibility for narcolepsy with cataplexy. We investigated whether the SNP was associated with EHS in the Japanese population.
We found a significant association with EHS patients possessing the HLA-DRB1*1501-DQB1*0602 haplotype, compared with HLA-matched healthy individuals, whereas no significant association was observed for EHS patients without this haplotype. Thus, TCRA is a plausible candidate for susceptibility to EHS patients positive for the HLA-DRB1*1501-DQB1*0602 haplotype.


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