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「全米図書賞」作家 多和田葉子さん 朗読イベントに出演

去年、アメリカで最も権威のある文学賞を受賞した、ドイツ在住の作家、多和田葉子さんが、一時帰国して朗読イベントに出演し、声で伝えることばのおもしろさを表現しました...

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A missense variant in PER2 is associated with delayed sleep-wake phase disorder in a Japanese population.

著者 Miyagawa T , Hida A , Shimada M , Uehara C , Nishino Y , Kadotani H , Uchiyama M , Ebisawa T , Inoue Y , Kamei Y , Tokunaga K , Mishima K , Honda M
J Hum Genet.2019 Sep 17 ; ():.
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Delayed sleep-wake phase disorder (DSWPD) is a subtype of circadian rhythm sleep-wake disorders, and is characterized by an inability to fall asleep until late at night and wake up at a socially acceptable time in the morning. The study aim was to identify low-frequency nonsense and missense variants that are associated with DSWPD. Candidate variants in circadian rhythm-related genes were extracted by integration of genetic variation databases and in silico assessment. We narrowed down the candidates to six variants. To examine whether the six variants are associated with DSWPD, we performed an association study in 236 Japanese patients with DSWPD and 1436 controls. A low-frequency missense variant (p.Val1205Met) in PER2 showed a significant association with DSWPD (2.5% in cases and 1.1% in controls, P = 0.026, odds ratio (OR) = 2.32). The variant was also associated with idiopathic hypersomnia known to have a tendency toward phase delay (P = 0.038, OR = 2.07). PER2 forms a heterodimer with CRY, and the heterodimer plays an important role in the regulation of circadian rhythms. Val1205 is located in the CRY-binding domain of PER2 and was hypothesized to interact with CRY. The p.Val1205Met substitution could be a potential genetic marker for DSWPD.
PMID: 31527662 [PubMed - as supplied by publisher]
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