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; P positivity 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. © 2010 The Japan Society of Human Genetics. All rights reserved.
CITATION STYLE
Miyagawa, T., Honda, M., Kawashima, M., Shimada, M., Tanaka, S., Honda, Y., & Tokunaga, K. (2010). Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype. Journal of Human Genetics, 55(1), 63–65. https://doi.org/10.1038/jhg.2009.118
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