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Polymorphism Located between CPT1B and CHKB,and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)
Authors:Taku Miyagawa  Makoto Honda  Minae Kawashima  Mihoko Shimada  Susumu Tanaka  Yutaka Honda  Katsushi Tokunaga
Affiliation:1. Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; 2. The Sleep Disorders Research Project, Tokyo Institute of Psychiatry, Tokyo, Japan.; 3. Japan Somnology Center, Neuropsychiatric Research Institute, Tokyo, Japan.; 4. Center for Narcolepsy, Stanford University School of Medicine, Palo Alto, California, United States of America.;University of Cambridge, United Kingdom
Abstract:

Background

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.

Principal Findings

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 (Ppositivity = 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.

Conclusion

CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy.
Keywords:
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