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論文
- タイトル
- タイトル（英）
- Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.
- 参照URL
- https://researchmap.jp/geogeo/published_papers/42792985
- 著者
- 著者（英）
- Hanna M Ollila,Eilon Sharon,Ling Lin,Nasa Sinnott-Armstrong,Aditya Ambati,Selina M Yogeshwar,Ryan P Hillary,Otto Jolanki,Juliette Faraco,Mali Einen,Guo Luo,Jing Zhang,Fang Han,Han Yan,Xiao Song Dong,Jing Li,Jun Zhang,Seung-Chul Hong,Tae Won Kim,Yves Dauvilliers,Lucie Barateau,Gert Jan Lammers,Rolf Fronczek,Geert Mayer,Joan Santamaria,Isabelle Arnulf,Stine Knudsen-Heier,May Kristin Lyamouri Bredahl,Per Medbøe Thorsby,Giuseppe Plazzi,Fabio Pizza,Monica Moresco,Catherine Crowe,Stephen K Van den Eeden,Michel Lecendreux,Patrice Bourgin,Takashi Kanbayashi,Francisco J Martínez-Orozco,Rosa Peraita-Adrados,Antonio Benetó,Jacques Montplaisir,Alex Desautels,Yu-Shu Huang,Poul Jennum,Sona Nevsimalova,David Kemlink,Alex Iranzo,Sebastiaan Overeem,Aleksandra Wierzbicka,Peter Geisler,Karel Sonka,Makoto Honda,Birgit Högl,Ambra Stefani,Fernando Morgadinho Coelho,Vilma Mantovani,Eva Feketeova,Mia Wadelius,Niclas Eriksson,Hans Smedje,Pär Hallberg,Per Egil Hesla,David Rye,Zerrin Pelin,Luigi Ferini-Strambi,Claudio L Bassetti,Johannes Mathis,Ramin Khatami,Adi Aran,Sheela Nampoothiri,Tomas Olsson,Ingrid Kockum,Markku Partinen,Markus Perola,Birgitte R Kornum,Sina Rueger,Juliane Winkelmann,Taku Miyagawa,Hiromi Toyoda,Seik-Soon Khor,Mihoko Shimada,Katsushi Tokunaga,Manuel Rivas,Jonathan K Pritchard,Neil Risch,Zoltan Kutalik,Ruth O'Hara,Joachim Hallmayer,Chun Jimmie Ye,Emmanuel J Mignot
- 担当区分
- 概要
- 概要（英）
- Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 and DPB1*04:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB1*06:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ*24, TRAJ*28 and TRBV*4-2 chain-usage. Partitioned heritability and immune cell enrichment analyses found genetic signals to be driven by dendritic and helper T cells. Lastly comorbidity analysis using data from FinnGen, suggests shared effects between NT1 and other autoimmune diseases. NT1 genetic variants shape autoimmunity and response to environmental triggers, including influenza A infection and immunization with Pandemrix®.
- 出版者・発行元
- 出版者・発行元（英）
- 誌名
- 誌名（英）
- Nature communications
- 巻
- 14
- 号
- 1
- 開始ページ
- 2709
- 終了ページ
- 2709
- 出版年月
- 2023年5月15日
- 査読の有無
- 査読有り
- 招待の有無
- 掲載種別
- 研究論文（学術雑誌）
- ISSN
- DOI URL
- https://doi.org/10.1038/s41467-023-36120-z
- 共同研究・競争的資金等の研究課題