Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype
Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype
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DOI：
10.1038/jhg.2009.118
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发表时间：
2010-01-01
影响因子：
3.5
通讯作者：
Tokunaga, Katsushi
中科院分区：
文献类型：
--
作者：
Miyagawa, Taku;Honda, Makoto;Tokunaga, Katsushi
特发性嗜睡症（EHS）表现出过度的白天嗜睡而无紧张症，并与HLA-DRB 1 *1501-DQB 1 *0602单倍型相关，类似于发作性睡病伴紧张症。位于T细胞受体α（TCRA）基因座的单核苷酸多态性（SNP）rs 1154155最近已被确定为一种新的遗传标记的易感性发作性睡病与catabolism。我们调查了SNP是否与日本人群的EHS相关。我们发现，与HLA匹配的健康个体相比，具有HLA-DRB 1 *1501-DQB 1 *0602单倍型的EHS患者具有显著的相关性（P（等位基因）=0.008; P（阳性）= 5x 10（-4）），而没有观察到该单倍型的EHS患者没有显著的相关性。因此，TCRA是HLA-DRB 1 *1501-DQB 1 *0602单倍型阳性的EHS患者易感性的合理候选者。Journal of Human Genetics（2010）55，63-65; doi：10.1038/jhg.2009.118; 2009年11月20日在线发表
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 alpha (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 (P(allele)=0.008; P(positivity)=5x10(-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. Journal of Human Genetics (2010) 55, 63-65; doi: 10.1038/jhg.2009.118; published online 20 November 2009