ArticleSleep2014
DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe.
Article in Sleep, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers.
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.
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.
Who cites it
88 citing papers in PubMed, 196 citations in OpenAlex.
- Narcolepsy is (not) an autoimmune disease.Nature reviews. Neurology · 2026Review
- Cytokines in narcolepsy type 1: pathogenic relevance, biomarker potential, and future directions.Frontiers in neurology · 2026Review
- 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 · 2025Article
- Narcolepsy 2025 (with an Australasian perspective).Internal medicine journal · 2025Review
- Narcolepsy as a potential risk factor for Schizophrenia.Translational psychiatry · 2025Article
- Association between human leukocyte antigen class II-DR-DQ and narcolepsy: a case control study.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024Article
- The Role of T Cells in the Pathogenesis of Narcolepsy Type 1: A Narrative Review.International journal of molecular sciences · 2024Review
- The immunopathogenesis of narcolepsy type 1.Nature reviews. Immunology · 2024Review
- Associations between T-cell traits and narcolepsy type 1: new insights from a Mendelian randomization study.Frontiers in neurology · 2024Article
- Correlation analysis between HLA-DQA1*0102/DQB1*0602 genotypes and narcolepsy patients in China.Frontiers in neurology · 2024Article
- Article
- A series of 7 cases of patients with narcolepsy with hypocretin deficiency without the HLA DQB1*06:02 allele.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2023Article
- Accurate prediction of HLA class II antigen presentation across all loci using tailored data acquisition and refined machine learning.Science advances · 2023Article
- Serum metabolomics study of narcolepsy type 1 based on ultra-performance liquid chromatography-tandem mass spectrometry.Amino acids · 2023Article
- Epigenetic silencing of selected hypothalamic neuropeptides in narcolepsy with cataplexy.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Orphan Drugs in Neurology-A Narrative Review.Journal of personalized medicine · 2023Review
- Cerebrospinal fluid proteomics in recent-onset Narcolepsy type 1 reveals activation of the complement system.Frontiers in immunology · 2023Article
- Population genetics and external proficiency testing for HLA disease associations.Frontiers in genetics · 2023Review
- Pfizer/BioNTech SARS-CoV-2 vaccine as a potential trigger for the development of narcolepsy: a case report.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2022Article
- [Real-life WAKE study in narcolepsy patients with cataplexy treated with pitolisant and unresponsive to previous treatments].Revista de neurologia · 2022Observational
28 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
46 authors at 20 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
STUDY
objectivePrior research has identified five common genetic variants associated with narcolepsy with cataplexy in Caucasian patients. To replicate and/or extend these findings, we have tested HLA-DQB1, the previously identified 5 variants, and 10 other potential variants in a large European sample of narcolepsy with cataplexy subjects.
designRetrospective case-control study.
settingA recent study showed that over 76% of significant genome-wide association variants lie within DNase I hypersensitive sites (DHSs). From our previous GWAS, we identified 30 single nucleotide polymorphisms (SNPs) with P < 10(-4) mapping to DHSs. Ten SNPs tagging these sites, HLADQB1, and all previously reported SNPs significantly associated with narcolepsy were tested for replication. PATIENTS AND
participantsFor GWAS, 1,261 narcolepsy patients and 1,422 HLA-DQB1*06:02-matched controls were included. For HLA study, 1,218 patients and 3,541 controls were included. MEASUREMENTS AND
resultsNone of the top variants within DHSs were replicated. Out of the five previously reported SNPs, only rs2858884 within the HLA region (P < 2x10(-9)) and rs1154155 within the TRA locus (P < 2x10(-8)) replicated. DQB1 typing confirmed that DQB1*06:02 confers an extraordinary risk (odds ratio 251). Four protective alleles (DQB1*06:03, odds ratio 0.17, DQB1*05:01, odds ratio 0.56, DQB1*06:09 odds ratio 0.21, DQB1*02 odds ratio 0.76) were also identified.
conclusionAn overwhelming portion of genetic risk for narcolepsy with cataplexy is found at DQB1 locus. Since DQB1*06:02 positive subjects are at 251-fold increase in risk for narcolepsy, and all recent cases of narcolepsy after H1N1 vaccination are positive for this allele, DQB1 genotyping may be relevant to public health policy.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.