Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
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DOI：
10.1371/journal.pone.0005394
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发表时间：
2009
期刊：
影响因子：
3.7
通讯作者：
Tokunaga K
中科院分区：
文献类型：
--
作者：
Miyagawa T;Honda M;Kawashima M;Shimada M;Tanaka S;Honda Y;Tokunaga K
位于CPT1B和CHKB之间的SNP rs5770917和HLA-DRB1*1501-DQB1*0602单倍型先前被鉴定为发作性睡病伴猝倒的易感位点。本研究的目的是调查这些遗传标记是否与日本中枢神经系统嗜睡症（特发性嗜睡症：EHS）相关，而不是发作性睡病伴猝倒症。 EHS 与 SNP rs5770917 (Pallele = 3.6×10−3; OR = 1.56; 95% c.i.: 1.12–2.15) 和 HLA-DRB1*1501-DQB1*0602 单倍型显着相关 (P阳性率 = 9.2×10−11；OR = 3.97；95% c.i.：2.55–6.19）。在 EHS 中未观察到两个标记（SNP rs5770917 和 HLA-DRB1*1501-DQB1*0602 单倍型）之间的相互作用。 CPT1B、CHKB 和 HLA 是中枢神经系统嗜睡 (EHS) 以及发作性睡病伴猝倒的易感人群。
SNP rs5770917 located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype were previously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether these genetic markers are associated with Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy. EHS was significantly associated with SNP rs5770917 (Pallele = 3.6×10−3; OR = 1.56; 95% c.i.: 1.12–2.15) and HLA-DRB1*1501-DQB1*0602 haplotype (P positivity = 9.2×10−11; OR = 3.97; 95% c.i.: 2.55–6.19). No interaction between the two markers (SNP rs5770917 and HLA-DRB1*1501-DQB1*0602 haplotype) was observed in EHS. CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy.
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