クワバラ　ヒトシ   KUWABARA Hitoshi   桑原　斉    所属   埼玉医科大学  医学部 神経精神科・心療内科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Evaluation of polygenic risks for narcolepsy and essential hypersomnia
掲載誌名	正式名：JOURNAL OF HUMAN GENETICS ISSNコード：14345161
出版社	NATURE PUBLISHING GROUP
巻・号・頁	61(10),873-878頁
著者・共著者	Maria Yamasaki,Taku Miyagawa,Hiromi Toyoda,Seik-Soon Khor,Xiaoxi Liu,Hitoshi Kuwabara,Yukiko Kano,Takafumi Shimada,Toshiro Sugiyama,Hisami Nishida,Nagisa Sugaya,Mamoru Tochigi,Takeshi Otowa,Yuji Okazaki,Hisanobu Kaiya,Yoshiya Kawamura,Akinori Miyashita,Ryozo Kuwano,Kiyoto Kasai,Hisashi Tanii,Tsukasa Sasaki,Yutaka Honda,Makoto Honda,Katsushi Tokunaga
発行年月	2016/10
概要	In humans, narcolepsy is a sleep disorder that is characterized by sleepiness, cataplexy and rapid eye movement (REM) sleep abnormalities. Essential hypersomnia (EHS) is another type of sleep disorder that is characterized by excessive daytime sleepiness without cataplexy. A human leukocyte antigen (HLA) class II allele, HLA-DQB1*06:02, is a major genetic factor for narcolepsy. Almost all narcoleptic patients are carriers of this HLA allele, while 30-50% of EHS patients and 12% of all healthy individuals in Japan carry this allele. The pathogenesis of narcolepsy and EHS is thought to be partially shared. To evaluate the contribution of common single-nucleotide polymorphisms (SNPs) to narcolepsy onset and to assess the common genetic background of narcolepsy and EHS, we conducted a polygenic analysis that included 393 narcoleptic patients, 38 EHS patients with HLA-DQB1*06:02, 119 EHS patients without HLA-DQB1*06:02 and 1582 healthy individuals. We also included 376 individuals with panic disorder and 213 individuals with autism to confirm whether the results were biased. Polygenic risks in narcolepsy were estimated to explain 58.1% (PHLA-DQB1*06:02 = 2.30 x 10(-48), Pwhole genome wi
DOI	10.1038/jhg.2016.65
PMID	27305985