ArticlePeerJ2013
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
Article in PeerJ, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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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.
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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.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes.Nature communications · 2019Pooled it
- A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.Journal of human genetics · 2018Trial
- Multi-organ imaging and genetics show the impact of sleep patterns on the human brain and body.Communications medicine · 2026Article
- Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.Human molecular genetics · 2023Article
- A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.BMC medical genomics · 2020Article
- Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.Translational psychiatry · 2020Article
- Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.Nature communications · 2019Article
- Genetics of narcolepsy.Human genome variation · 2019Review
- Genetic Variants Associated With Obesity and Insulin Resistance in Hispanic Boys With Nonalcoholic Fatty Liver Disease.Journal of pediatric gastroenterology and nutrition · 2018Article
- Evolutionary adaptation revealed by comparative genome analysis of woolly mammoths and elephants.DNA research : an international journal for rapid publication of reports on genes and genomes · 2017Article
- Evaluation of polygenic risks for narcolepsy and essential hypersomnia.Journal of human genetics · 2016Article
- Genome-Wide Association Study between Single Nucleotide Polymorphisms and Flight Speed in Nellore Cattle.PloS one · 2016Article
- Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood.PLoS genetics · 2015Article
- Central Disorders of Hypersomnolence: Focus on the Narcolepsies and Idiopathic Hypersomnia.Chest · 2015Review
- Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population.Journal of human genetics · 2014Article
- Reversal of CD8 T-cell-mediated mucocutaneous graft-versus-host-like disease by the JAK inhibitor tofacitinib.The Journal of investigative dermatology · 2014Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Essential hypersomnia (EHS), a sleep disorder characterized by excessive daytime sleepiness, can be divided into two broad classes based on the presence or absence of the HLA-DQB1*06:02 allele. HLA-DQB1*06:02-positive EHS and narcolepsy with cataplexy are associated with the same susceptibility genes. In contrast, there are fewer studies of HLA-DQB1*06:02 negative EHS which, we hypothesized, involves a different pathophysiological pathway than does narcolepsy with cataplexy. In order to identify susceptibility genes associated with HLA-DQB1*06:02 negative EHS, we conducted a genome-wide association study (GWAS) of 125 unrelated Japanese EHS patients lacking the HLA-DQB1*06:02 allele and 562 Japanese healthy controls. A comparative study was also performed on 268 HLA-DQB1*06:02 negative Caucasian hypersomnia patients and 1761 HLA-DQB1*06:02 negative Caucasian healthy controls. We identified three SNPs that each represented a unique locus- rs16826005 (P = 1.02E-07; NCKAP5), rs11854769 (P = 6.69E-07; SPRED1), and rs10988217 (P = 3.43E-06; CRAT) that were associated with an increased risk of EHS in this Japanese population. Interestingly, rs10988217 showed a similar tendency in its association with both HLA-DQB1*06:02 negative EHS and narcolepsy with cataplexy in both Japanese and Caucasian populations. This is the first GWAS of HLA-DQB1*06:02 negative EHS, and the identification of these three new susceptibility loci should provide additional insights to the pathophysiological pathway of this condition.
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