Abstract
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 α (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 (Pallele=0.008; Ppositivity=5 × 10−4), 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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Acknowledgements
We thank all participants in this study. This study was supported by Grants-in-Aid for Scientific Research on Priority Areas ‘Comprehensive Genomics’ and ‘Applied Genomics’ from the Ministry of Education, Culture, Sports, Science and Technology of Japan and by a Grant-in-Aid for JSPS fellows, Astellas Foundation for Research on Metabolic Disorders and Takeda Science Foundation.
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Miyagawa, T., Honda, M., Kawashima, M. et al. Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype. J Hum Genet 55, 63–65 (2010). https://doi.org/10.1038/jhg.2009.118
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DOI: https://doi.org/10.1038/jhg.2009.118
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