{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ollila HM"],"funding":["Instrumentariumin Tiedesäätiö","GlaxoSmithKline","U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases","Sigrid Juséliuksen Säätiö","NIAID NIH HHS","NIMH NIH HHS","Finnish Cultural Foundation | Etelä-Karjalan Rahasto","National Science Foundation of China | Key Programme","Academy of Finland","U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke","Charité Universitat medizin Berlin, PhD fellowship","NINDS NIH HHS","Jazz Pharmaceuticals"],"pagination":["2709"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10185546"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["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 "],"journal":["Nature communications"],"pubmed_title":["Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy."],"pmcid":["PMC10185546"],"funding_grant_id":["R01 AI144798","NS23723","P50 NS023724","NS23724","AI144798","RC2 MH089916","81420108002","309643","81670087"],"pubmed_authors":["Khatami R","Helminen M","Harju T","Obeidat ME","Arvas M","Soini S","Addis L","Bowers N","Abbasi A","Ngo D","Makela TP","Meretoja T","Mathis J","Xu F","Aberg F","Crowe C","Platt A","Fronczek R","Suominen L","Dong XS","Soininen H","Tuomi T","Miller M","Jennum P","Miller J","Hogl B","Hillary RP","Savukoski S","Ripatti S","Uimari O","Bredahl MKL","Kytola A","Huertas-Vazquez A","Reilly D","Kim TW","Piltonen T","Mignot EJ","Mishra R","Farias F","Wong R","Heikinheimo O","Hallmayer J","Beneto A","Linna MM","Hochfeld M","Kristiansson K","Willberg T","Elenius K","Loukola 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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 ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2026-05-29T19:20:16.044Z","creation":"2024-12-03T21:38:59.663Z"},"accession":"S-EPMC10185546","cross_references":{"pubmed":["37188663"],"doi":["10.1038/s41467-023-36120-z"]}}