Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

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Fältnamn	Indikatorer	Metadata
000		15155naa a2201441 4500
001		oai:DiVA.org:uu-507041
003		SwePub
008		230704s2023 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:152948290
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5070412 URI
024	7	a https://doi.org/10.1038/s41467-023-36120-z2 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1529482902 URI
040		a (SwePub)uud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Ollila, Hanna M.u Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.;Univ Helsinki, Inst Mol Med Finland, HiLIFE, Helsinki, Finland.;Massachusetts Gen Hosp, Anesthesia Crit Care & Pain Med, Boston, MA USA.;Harvard Med Sch, Boston, MA USA.;Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA.4 aut
245	1 0	a Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy
264	1	b Springer Nature,c 2023
338		a electronic2 rdacarrier
520		a 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 (R). 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, DQB103:01 and DPB104:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB106:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ24, TRAJ28 and TRBV4-2 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 (R).
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
700	1	a Sharon, Eilonu Stanford Univ, Dept Genet, Stanford, CA 94305 USA.;Stanford Univ, Dept Biol, Stanford, CA 94305 USA.4 aut
700	1	a Lin, Lingu Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.4 aut
700	1	a Sinnott-Armstrong, Nasau Stanford Univ, Dept Genet, Stanford, CA 94305 USA.;Stanford Univ, Dept Biol, Stanford, CA 94305 USA.4 aut
700	1	a Ambati, Adityau Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.4 aut
700	1	a Yogeshwar, Selina M.u Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.;Charite, Dept Neurol, D-10117 Berlin, Germany.;Charite, Einstein Ctr Neurosci Berlin, D-10117 Berlin, Germany.4 aut
700	1	a Hillary, Ryan P.u Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.4 aut
700	1	a Jolanki, Otto4 aut
700	1	a Faraco, Julietteu Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.4 aut
700	1	a Einen, Maliu Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.4 aut
700	1	a Luo, Guou Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.4 aut
700	1	a Zhang, Jingu Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.4 aut
700	1	a Han, Fangu Peking Univ Peoples Hosp, Div Sleep Med, Beijing, Peoples R China.4 aut
700	1	a Yan, Hanu Peking Univ Peoples Hosp, Div Sleep Med, Beijing, Peoples R China.4 aut
700	1	a Dong, Xiao Songu Peking Univ Peoples Hosp, Div Sleep Med, Beijing, Peoples R China.4 aut
700	1	a Li, Jingu Peking Univ Peoples Hosp, Div Sleep Med, Beijing, Peoples R China.4 aut
700	1	a Zhang, Junu Peking Univ Peoples Hosp, Dept Neurol, Beijing, Peoples R China.4 aut
700	1	a Hong, Seung-Chulu Catholic Univ Korea, St Vincents Hosp, Dept Psychiat, Suwon, South Korea.4 aut
700	1	a Kim, Tae Wonu Catholic Univ Korea, St Vincents Hosp, Dept Psychiat, Suwon, South Korea.4 aut
700	1	a Dauvilliers, Yvesu Univ Montpellier I, Gui De Chauliac Hosp,INSERM, CHU Montpellier,Inst Neurosci Montpellier INM, Dept Neurol,Sleep Wake Disorders Ctr,Natl Referen, Montpellier, France.4 aut
700	1	a Barateau, Lucieu Univ Montpellier I, Gui De Chauliac Hosp,INSERM, CHU Montpellier,Inst Neurosci Montpellier INM, Dept Neurol,Sleep Wake Disorders Ctr,Natl Referen, Montpellier, France.4 aut
700	1	a Lammers, Gert Janu Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands.;Stichting Epilepsie Instellingen Nederland SEIN, Sleep Wake Ctr, Heemstede, Netherlands.4 aut
700	1	a Fronczek, Rolfu Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands.;Stichting Epilepsie Instellingen Nederland SEIN, Sleep Wake Ctr, Heemstede, Netherlands.4 aut
700	1	a Mayer, Geertu Hephata Klin, Schimmelpfengstr 6, D-34613 Schwalmstadt, Germany.;Philipps Univ Marburg, Baldinger Str, D-35043 Marburg, Germany.4 aut
700	1	a Santamaria, Joanu Univ Barcelona, Inst Neurociencies Hosp Clin, Neurol Serv, Barcelona, Spain.4 aut
700	1	a Arnulf, Isabelleu Hop La Pitie Salpetriere, AP HP, Sleep Disorder Unit, F-75013 Paris, France.4 aut
700	1	a Knudsen-Heier, Stineu Oslo Univ Hosp, Dept Rare Disorders, Norwegian Ctr Expertise Neurodeve Disor, Oslo, Norway.;Univ Oslo, Oslo, Norway.4 aut
700	1	a Bredahl, May Kristin Lyamouriu Oslo Univ Hosp, Dept Rare Disorders, Norwegian Ctr Expertise Neurodeve Disor, Oslo, Norway.;Univ Oslo, Oslo, Norway.;Oslo Univ Hosp, Dept Med Biochem, Hormone Lab, Oslo, Norway.4 aut
700	1	a Thorsby, Per Medboeu Oslo Univ Hosp, Dept Med Biochem, Hormone Lab, Oslo, Norway.4 aut
700	1	a Plazzi, Giuseppeu Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Via Ugo Foscolo 7, I-40123 Bologna, Italy.;IRCCS Inst Neurol Sci, Bologna, Italy.4 aut
700	1	a Pizza, Fabiou Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Via Ugo Foscolo 7, I-40123 Bologna, Italy.;IRCCS Inst Neurol Sci, Bologna, Italy.4 aut
700	1	a Moresco, Monicau Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Via Ugo Foscolo 7, I-40123 Bologna, Italy.;IRCCS Inst Neurol Sci, Bologna, Italy.4 aut
700	1	a Crowe, Catherineu Mater Private Hosp, Dublin 7, Ireland.4 aut
700	1	a Van den Eeden, Stephen K.u Kaiser Permanente Northern Calif, Div Res, Oakland, CA USA.4 aut
700	1	a Lecendreux, Michelu Pediat Sleep Ctr & Natl Reference Ctr Narcolepsy, Paris, France.4 aut
700	1	a Bourgin, Patriceu Univ Strasbourg, Strasbourg Univ Hosp, Dept Sleep Med, Strasbourg, France.4 aut
700	1	a Kanbayashi, Takashiu Akita Univ, Grad Sch Med, Dept Neuropsychiat, Akita, Japan.;Univ Tsukuba, Int Inst Integrat Sleep Med WPI IIIS, Tsukuba, Ibaraki, Japan.4 aut
700	1	a Martinez-Orozco, Francisco J.u Univ Complutense Madrid, San Carlos Univ Hosp, Clin Neurophysiol Serv, Sleep Unit, Madrid, Spain.4 aut
700	1	a Peraita-Adrados, Rosau Univ Complutense Madrid UCM, Gregorio Maranon Univ Gen Hosp & Res Inst, Sleep & Epilepsy Unit, Clin Neurophysiol Serv, Madrid, Spain.4 aut
700	1	a Beneto, Antoniou Med Ctr Valencia, Sleep Unit, Valencia, Spain.4 aut
700	1	a Montplaisir, Jacquesu Univ Montreal, Hop Sacre Coeur & Dept Neurosci, Ctr Adv Res Sleep Med, Montreal, PQ, Canada.4 aut
700	1	a Desautels, Alexu Univ Montreal, Hop Sacre Coeur & Dept Neurosci, Ctr Adv Res Sleep Med, Montreal, PQ, Canada.4 aut
700	1	a Huang, Yu-Shuu Chang Gung Mem Hosp & Univ, Dept Child Psychiat & Sleep Ctr, Taoyuan, Taiwan.4 aut
700	1	a FinnGen, Poul Jennumu Univ Copenhagen, Glostrup Hosp, Dept Clin Neurophysiol, Danish Ctr Sleep Med, Glostrup, Denmark.4 aut
700	1	a Jennum, Poul4 aut
700	1	a Nevsimalova, Sonau Charles Univ & Gen Univ Hosptal, First Fac Med, Dept Neurol & Ctr Clin Neurosci, Prague, Czech Republic.4 aut
700	1	a Kemlink, Davidu Charles Univ & Gen Univ Hosptal, First Fac Med, Dept Neurol & Ctr Clin Neurosci, Prague, Czech Republic.4 aut
700	1	a Iranzo, Alexu Inst Invest Biomed August Pi & Sunyer ID, Barcelona, Spain.;Dept Neurol, Barcelona, Spain.;Multidisciplinary Sleep Disorders Unit, Barcelona, Spain.4 aut
700	1	a Overeem, Sebastiaanu Sleep Med Ctr Kempenhaeghe, POB 61, NL-5590 AB Heeze, Netherlands.;Eindhoven Univ Technol, Eindhoven, Netherlands.4 aut
700	1	a Wierzbicka, Aleksandrau Inst Psychiat & Neurol, Dept Clin Neurophysiol, Warsaw, Poland.4 aut
700	1	a Geisler, Peteru Univ Regensburg, Dept Psychiat & Psychotherapy, Regensburg, Germany.4 aut
700	1	a Sonka, Karelu Charles Univ & Gen Univ Hosptal, First Fac Med, Dept Neurol & Ctr Clin Neurosci, Prague, Czech Republic.4 aut
700	1	a Honda, Makotou Tokyo Metropolitan Inst Med Sci, Dept Psychiat & Behav Sci, Tokyo, Japan.;Seiwa Hosp, Neuropsychiatr Res Inst, Tokyo, Japan.4 aut
700	1	a Högl, Birgitu Med Univ Innsbruck MUI, Dept Neurol, Innsbruck, Austria.4 aut
700	1	a Stefani, Ambrau Med Univ Innsbruck MUI, Dept Neurol, Innsbruck, Austria.4 aut
700	1	a Coelho, Fernando Morgadinhou Univ Fed Sao Paulo, Dept Psicobiol, Sao Paulo, Brazil.4 aut
700	1	a Mantovani, Vilmau St Orsola Malpighi Univ Hosp, Ctr Appl Biomed Res CRBA, Bologna, Italy.4 aut
700	1	a Feketeova, Evau Safarik Univ, Univ Hosp L Pasteur Kosice, Neurol Dept, Med Fac, Kosice, Slovakia.4 aut
700	1	a Wadelius, Miau Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)miawadel
700	1	a Eriksson, Niclas,d 1978-u Uppsala universitet,Uppsala kliniska forskningscentrum (UCR),Institutionen för medicinska vetenskaper,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)nieri103
700	1	a Smedje, Hansu Karolinska Inst, Div Child & Adolescent Psychiat, Stockholm, Sweden.4 aut
700	1	a Hallberg, Pär,d 1974-u Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)pahal677
700	1	a Hesla, Per Egilu Coliseum Majorstua Clin, Oslo, Norway.4 aut
700	1	a Rye, Davidu Emory Univ, Dept Neurol, Sch Med, Atlanta, GA USA.4 aut
700	1	a Pelin, Zerrinu Hasan Kalyoncu Univ, Fac Hlth Sci, Gaziantep, Turkiye.4 aut
700	1	a Ferini-Strambi, Luigiu Hasan Kalyoncu Univ, Fac Hlth Sci, Gaziantep, Turkiye.4 aut
700	1	a Bassetti, Claudio L.u Univ Vita Salute, Osped San Raffaele, Div Neurosci, Sleep Disorders Ctr, Milan, Italy.;Osped Regionale Lugano, Dept Neurol, EOC, Lugano, Switzerland.4 aut
700	1	a Mathis, Johannesu Osped Regionale Lugano, Dept Neurol, EOC, Lugano, Switzerland.4 aut
700	1	a Khatami, Raminu Osped Regionale Lugano, Dept Neurol, EOC, Lugano, Switzerland.;Univ Hosp Bern, Inselspital, Dept Neurol, Bern, Switzerland.;Univ Bern, Bern, Switzerland.4 aut
700	1	a Aran, Adiu Clin Barmelweid AG, Ctr Sleep Med & Sleep Res, Barmelweid, Switzerland.4 aut
700	1	a Nampoothiri, Sheelau Shaare ZedekMed Ctr, Jerusalem, Israel.4 aut
700	1	a Olsson, Tomasu Karolinska Institutet4 aut
700	1	a Kockum, Ingridu Karolinska Institutet4 aut
700	1	a Partinen, Markkuu Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.;Helsinki Sleep Clin, Vitalmed Res Ctr, Helsinki, Finland.4 aut
700	1	a Perola, Markusu Univ Helsinki, Dept Clin Neurosci, Helsinki, Finland.4 aut
700	1	a Kornum, Birgitte R.u Univ Tartu, Univ Helsinki, Inst Mol Med, Estonian Genome Ctr,Finland FIMM & Diabet & Obes, Tartu, Estonia.4 aut
700	1	a Rueger, Sinau Univ Copenhagen, Dept Neurosci, Copenhagen, Denmark.4 aut
700	1	a Winkelmann, Julianeu Swiss Inst Bioinformat, Lausanne, Switzerland.;Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Neurogen, Neuherberg, Germany.;Munich Cluster Syst Neurol SyNergy, Munich, Germany.4 aut
700	1	a Miyagawa, Taku4 aut
700	1	a Toyoda, Hiromi4 aut
700	1	a Khor, Seik-Soonu Univ Munich, Klinikum Rechts Isar Techn, Neurolog Klin & Poliklin, Munich, Germany.4 aut
700	1	a Shimada, Mihokou Univ Munich, Klinikum Rechts Isar Techn, Neurolog Klin & Poliklin, Munich, Germany.4 aut
700	1	a Tokunaga, Katsushiu Univ Munich, Klinikum Rechts Isar Techn, Neurolog Klin & Poliklin, Munich, Germany.4 aut
700	1	a Rivas, Manuelu Univ Tokyo, Grad Sch Med, Dept Human Genet, Tokyo, Japan.4 aut
700	1	a Pritchard, Jonathan K.4 aut
700	1	a Risch, Neilu Stanford Univ, Dept Biomed Data Sci Adm, Palo Alto, CA USA.4 aut
700	1	a Kutalik, Zoltanu UCSF, Dept Epidemiol & Biostat, 513 Parnassus Ave, San Francisco, CA 94117 USA.4 aut
700	1	a O'Hara, Ruthu Univ Lausanne, Univ Ctr Primary Care & Publ Hlth, Lausanne, Switzerland.;Stanford Univ, Dept Psychiat & Behav Sci, Palo Alto, CA USA.;Mental Illness Res Educ Clin Centers MIRECC, Palo Alto, CA USA.4 aut
700	1	a Hallmayer, Joachimu Univ Lausanne, Univ Ctr Primary Care & Publ Hlth, Lausanne, Switzerland.;Stanford Univ, Dept Psychiat & Behav Sci, Palo Alto, CA USA.4 aut
700	1	a Ye, Chun Jimmieu Univ Calif San Francisco, Inst Human Genet, Dept Epidemiol Biostat, San Francisco, CA USA.4 aut
700	1	a Mignot, Emmanuel J.u Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.4 aut
710	2	a Stanford Univ, Dept Psychiat & Behav Sci, Ctr Sleep Sci & Med, Palo Alto, CA 94304 USA.;Univ Helsinki, Inst Mol Med Finland, HiLIFE, Helsinki, Finland.;Massachusetts Gen Hosp, Anesthesia Crit Care & Pain Med, Boston, MA USA.;Harvard Med Sch, Boston, MA USA.;Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA.b Stanford Univ, Dept Genet, Stanford, CA 94305 USA.;Stanford Univ, Dept Biol, Stanford, CA 94305 USA.4 org
773	0	t Nature Communicationsd : Springer Natureg 14q 14x 2041-1723
856	4	u https://doi.org/10.1038/s41467-023-36120-zy Fulltext
856	4	u https://uu.diva-portal.org/smash/get/diva2:1779818/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-507041
856	4 8	u https://doi.org/10.1038/s41467-023-36120-z
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:152948290

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Av författaren/redakt...: Ollila, Hanna M.; Sharon, Eilon; Lin, Ling; Sinnott-Armstron ...; Ambati, Aditya; Yogeshwar, Selin ...; visa fler...; Hillary, Ryan P.; Jolanki, Otto; Faraco, Juliette; Einen, Mali; Luo, Guo; Zhang, Jing; Han, Fang; Yan, Han; Dong, Xiao Song; Li, Jing; Zhang, Jun; Hong, Seung-Chul; Kim, Tae Won; Dauvilliers, Yve ...; Barateau, Lucie; Lammers, Gert Ja ...; Fronczek, Rolf; Mayer, Geert; Santamaria, Joan; Arnulf, Isabelle; Knudsen-Heier, S ...; Bredahl, May Kri ...; Thorsby, Per Med ...; Plazzi, Giuseppe; Pizza, Fabio; Moresco, Monica; Crowe, Catherine; Van den Eeden, S ...; Lecendreux, Mich ...; Bourgin, Patrice; Kanbayashi, Taka ...; Martinez-Orozco, ...; Peraita-Adrados, ...; Beneto, Antonio; Montplaisir, Jac ...; Desautels, Alex; Huang, Yu-Shu; FinnGen, Poul Je ...; Jennum, Poul; Nevsimalova, Son ...; Kemlink, David; Iranzo, Alex; Overeem, Sebasti ...; Wierzbicka, Alek ...; Geisler, Peter; Sonka, Karel; Honda, Makoto; Högl, Birgit; Stefani, Ambra; Coelho, Fernando ...; Mantovani, Vilma; Feketeova, Eva; Wadelius, Mia; Eriksson, Niclas ...; Smedje, Hans; Hallberg, Pär, 1 ...; Hesla, Per Egil; Rye, David; Pelin, Zerrin; Ferini-Strambi, ...; Bassetti, Claudi ...; Mathis, Johannes; Khatami, Ramin; Aran, Adi; Nampoothiri, She ...; Olsson, Tomas; Kockum, Ingrid; Partinen, Markku; Perola, Markus; Kornum, Birgitte ...; Rueger, Sina; Winkelmann, Juli ...; Miyagawa, Taku; Toyoda, Hiromi; Khor, Seik-Soon; Shimada, Mihoko; Tokunaga, Katsus ...; Rivas, Manuel; Pritchard, Jonat ...; Risch, Neil; Kutalik, Zoltan; O'Hara, Ruth; Hallmayer, Joach ...; Ye, Chun Jimmie; Mignot, Emmanuel ...; visa färre...

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