Evidence map›Paper›PMID 41364757›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2025

HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity.

Lisan Zhang, Shuo Cai, Ashton Teng, Ling Lin, Fang Han, Han Yan, Seung-Chul Hong, Fabio Pizza, Giuseppe Plazzi, Luca Morandi and 20 more

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

30 authors.

Lisan ZhangDepartment of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou 310016, China.ORCID 0000-0002-3774-9926
Shuo CaiCentre of Biomedical Systems and Informatics, Zhejiang University-University of Edinburgh Institute, Zhejiang University School of Medicine, Haining 314400, China.
Ashton TengDepartment of Psychiatry and Behavioral Sciences, Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304.
Ling LinDepartment of Psychiatry and Behavioral Sciences, Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304.ORCID 0000-0002-3406-0058
Fang HanDivision of Sleep Medicine, The Peking University People's Hospital, Beijing 100044, China.
Han YanDepartment of Psychiatry and Behavioral Sciences, Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304.
Seung-Chul HongDepartment of Neuropsychiatry, College of Medicine, St. Vincent's Hospital, Catholic University of Korea, Seoul 16247, Korea.
Fabio PizzaDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40139, Italy.
Giuseppe PlazziIstituto di Ricovero e Cura a Carattere Scientifico - IRCCS Institute of Neurological Sciences, Bologna 40139, Italy.
Luca MorandiDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40139, Italy.ORCID 0000-0002-3810-9760
Ambra StefaniDepartment of Neurology, Innsbruck Medical University, Innsbruck 6020, Austria.ORCID 0000-0003-4259-8824
Birgit HöglDepartment of Neurology, Innsbruck Medical University, Innsbruck 6020, Austria.
Michel LecendreuxPediatric Sleep Center and National Reference Center for Narcolepsy and Idiopathic Hypersomnia Hospital Robert Debre, Paris 75019, France.
Patrice BourginDepartment of Sleep Medicine, Strasbourg University Hospital, Strasbourg University, Strasbourg 67091, France.ORCID 0000-0003-2268-5840
Isabelle ArnulfSleep Disorder Unit, Pitié-Salpêtrière Hospital, Assistance Publique-Hopitaux de Paris, Paris 75013, France.
Stine Knudsen-HeierNorwegian Centre of Expertise for Neurodevelopment Disorders and Hypersomnias, Department of Rare Disorders, Oslo University Hospital and University of Oslo, Oslo NO-0424, Norway.
Takashi KanbayashiInternational Institute for Integrative Sleep Medicine (WPI-IIIS), University of Tsukuba, Tsukuba 305-0005, Japan.
Yu-Shu HuangDepartment of Child Psychiatry and Sleep Center, Chang Gung Memorial Hospital and University, Taoyuan 33305, Taiwan.ORCID 0000-0002-4015-5942
Poul JennumDanish Center for Sleep Medicine, Department of Clinical Neurophysiology, University of Copenhagen, Glostrup Hospital, Glostrup DK-2600, Denmark.
Karel SonkaDepartment of Neurology and Centre of Clinical Neurosciences, First Faculty of Medicine, Charles University and General University Hospital, Prague 116 36, Czech Republic.
Sona NevsimalovaDepartment of Neurology and Centre of Clinical Neurosciences, First Faculty of Medicine, Charles University and General University Hospital, Prague 116 36, Czech Republic.ORCID 0000-0003-0083-3742
Makoto HondaDepartment of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan.ORCID 0000-0001-5087-6367
Fernando Morgadinho CoelhoDepartamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo 04024-002, Brazil.ORCID 0000-0002-8482-3754
Zerrin PelinFaculty of Health Sciences, Hasan Kalyoncu University, Gaziantep 27500, Türkiye.ORCID 0000-0002-8841-0068
Luigi Ferini-StrambiSleep Disorders Center, Division of Neuroscience, Ospedale San Raffaele, Università Vita-Salute, Milan 20127, Italy.
Taku MiyagawaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo 162-8655, Japan.
Seik-Soon KhorDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo 162-8655, Japan.
Katsushi TokunagaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo 162-8655, Japan.
Wanlu LiuCentre of Biomedical Systems and Informatics, Zhejiang University-University of Edinburgh Institute, Zhejiang University School of Medicine, Haining 314400, China.ORCID 0000-0001-5963-2908
Emmanuel J MignotDepartment of Psychiatry and Behavioral Sciences, Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304.ORCID 0000-0002-6928-5310

Funding

HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) NS237254
6 · The paper itself

Abstract

Type 1 narcolepsy (T1N), an autoimmune disease associated with a disruption of hypocretin/orexin neurons, has conserved genetic effects transcending cultures and ethnicities. We pooled data from 5,339 cases from China, Europe, Korea, Japan, and the United States to conduct the first transethnic genome-wide association study (GWAS) on age of onset. Only one strong GWAS significant effect was observed across all ethnicities, summarized by the presence of human leukocyte antigen (HLA)-DQB1*03:01, and centered around the coding region of this gene. In contrast, HLA-DQB1*06:02-positive heterodimer (DQ0602) dosage did not strongly affect onset, and other known narcolepsy-associated genetic loci had minor effects. The HLA-DQB1*03:01 effect (mean -3.47 y,

Indexed as

HLA-DQ alpha-ChainsHLA-DQ beta-ChainsNarcolepsyAdultAge of OnsetAllelesEthnicityFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideHLA-DQA1 antigenHLA-DQ alpha-ChainsHLA-DQB1 antigenHLA-DQ beta-ChainsageHLAnarcolepsyonsetorexin

Identifiers

PMID41364757
PMCPMC12718323

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.