Evidence map›Paper›PMID 30266950›Full record

Trial reportJournal of human genetics2018

A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.

Taku Miyagawa, Seik-Soon Khor, Hiromi Toyoda, Takashi Kanbayashi, Aya Imanishi, Yohei Sagawa, Nozomu Kotorii, Tatayu Kotorii, Yu Ariyoshi, Yuji Hashizume and 48 more

Abstract readClinical TrialMulticenter Study
PubMed Publisher
In one paragraph

Trial report in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 40% of its field
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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Genetics of narcolepsy.Human genome variation · 2019
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

58 authors at 20 institutions in 1 country.

Taku MiyagawaSleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan. miyagawa-taku@umin.ac.jp.
Seik-Soon KhorDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0002-6809-4731
Hiromi ToyodaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Takashi KanbayashiDepartment of Neuropsychiatry, Akita University School of Medicine, Akita, Japan.
Aya ImanishiDepartment of Neuropsychiatry, Akita University School of Medicine, Akita, Japan.
Yohei SagawaDepartment of Neuropsychiatry, Akita University School of Medicine, Akita, Japan.
Nozomu KotoriiDepartment of Neuropsychiatry, Kurume University School of Medicine, Fukuoka, Japan.
Tatayu KotoriiKotorii Isahaya Hospital, Nagasaki, Japan.
Yu AriyoshiAriyoshi Sleep Clinic, Fukuoka, Japan.
Yuji HashizumeDepartment of Neuropsychiatry, Kurume University School of Medicine, Fukuoka, Japan.
Kimihiro OgiDepartment of Neuropsychiatry, Kurume University School of Medicine, Fukuoka, Japan.
Hiroshi HiejimaDepartment of Neuropsychiatry, Kurume University School of Medicine, Fukuoka, Japan.
Yuichi KameiDepartment of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Akiko HidaDepartment of Sleep-Wake Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan.
Masayuki MiyamotoDepartment of Neurology, Dokkyo Medical University, Tochigi, Japan.
Azusa IkegamiSleep Center, Kuwamizu Hospital, Kumamoto, Japan.
Yamato WadaDepartment of Psychiatry, Hannan Hospital, Osaka, Japan.
Masanori TakamiDepartment of Psychiatry, Shiga University of Medical Science, Shiga, Japan.
Yuichi HigashiyamaDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
Ryoko MiyakeDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
Hideaki KondoCenter for Sleep Medicine, Saiseikai Nagasaki Hospital, Nagasaki, Japan.
Yota FujimuraDepartment of Psychiatry and Neurology, Asahikawa Medical University, Hokkaido, Japan.
Yoshiyuki TamuraDepartment of Psychiatry and Neurology, Asahikawa Medical University, Hokkaido, Japan.
Yukari TaniyamaDepartment of Neurology, Junwakai Memorial Hospital, Miyazaki, Japan.
Naoto OmataDepartment of Neuropsychiatry, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
Yuji TanakaDepartment of Neuropsychiatry, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
Shunpei MoriyaDepartment of Psychiatry, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
Hirokazu FuruyaDepartment of Neurology, Neuro-Muscular Center, National Omuta Hospital, Fukuoka, Japan.
Mitsuhiro KatoDepartment of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
Yoshiya KawamuraDepartment of Psychiatry, Shonan Kamakura General Hospital, Kanagawa, Japan.
Takeshi OtowaGraduate School of Clinical Psychology, Teikyo Heisei University Major of Professional Clinical Psychology, Tokyo, Japan.
Akinori MiyashitaDepartment of Molecular Genetics, Center for Bioresources, Brain Research Institute, Niigata University, Niigata, Japan.
Hiroto KojimaHLA Foundation Laboratory, Kyoto, Japan.
Hiroh SajiHLA Foundation Laboratory, Kyoto, Japan.
Mihoko ShimadaSleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Maria YamasakiDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Takumi KobayashiDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Rumi MisawaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Yosuke ShigematsuDepartment of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
Ryozo KuwanoDepartment of Molecular Genetics, Center for Bioresources, Brain Research Institute, Niigata University, Niigata, Japan.
Tsukasa SasakiDepartment of Physical and Health Education, Graduate School of Education, The University of Tokyo, Tokyo, Japan.
Jun IshigookaInstitute of CNS Pharmacology, Tokyo, Japan.
Yuji WadaDepartment of Neuropsychiatry, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
Kazuhito TsurutaDepartment of Neurology, Junwakai Memorial Hospital, Miyazaki, Japan.
Shigeru ChibaDepartment of Psychiatry and Neurology, Asahikawa Medical University, Hokkaido, Japan.
Fumiaki TanakaDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
Naoto YamadaDepartment of Psychiatry, Shiga University of Medical Science, Shiga, Japan.
Masako OkawaDepartment of Sleep Medicine, Shiga University of Medical Science, Shiga, Japan.
Kenji KurodaDepartment of Psychiatry, Hannan Hospital, Osaka, Japan.
Kazuhiko KumeSleep Center, Kuwamizu Hospital, Kumamoto, Japan.
Koichi HirataDepartment of Neurology, Dokkyo Medical University, Tochigi, Japan.
Naohisa UchimuraDepartment of Neuropsychiatry, Kurume University School of Medicine, Fukuoka, Japan.
Tetsuo ShimizuDepartment of Neuropsychiatry, Akita University School of Medicine, Akita, Japan.
Yuichi InoueDepartment of Somnology, Tokyo Medical University, Tokyo, Japan.
Yutaka HondaSeiwa Hospital, Neuropsychiatric Research Institute, Tokyo, Japan.
Kazuo MishimaDepartment of Neuropsychiatry, Akita University School of Medicine, Akita, Japan.
Makoto HondaSleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Katsushi TokunagaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Kurume University · JPUniversity of Fukui · JPThe University of Tokyo · JPAsahikawa Medical University · JPUniversity of Tsukuba · JPYokohama City University · JPAkita University · JPBunkyo Gakuin University · JPDokkyo Medical University · JPNational Center of Neurology and Psychiatry · JPNiigata University · JPSeiwa Hospital · JPShiga University of Medical Science · JPTokyo Medical University · JPTokyo Metropolitan Institute of Medical Science · JPHannan University · JPJapan Graduate School of Education University · JPNagasaki Ajisai Hospital · JPNagoya City University · JPOmuta hospital · JP

Funding

Japan Agency for Medical Research and Development (AMED) 17ek0109208h0001Japan Society for the Promotion of Science (JSPS) 15H04709Japan Society for the Promotion of Science (JSPS) 22133008Japan Society for the Promotion of Science (JSPS) 23689022
6 · The paper itself

Abstract

Essential hypersomnia (EHS) is a lifelong disorder characterized by excessive daytime sleepiness without cataplexy. EHS is associated with human leukocyte antigen (HLA)-DQB1*06:02, similar to narcolepsy with cataplexy (narcolepsy). Previous studies suggest that DQB1*06:02-positive and -negative EHS are different in terms of their clinical features and follow different pathological pathways. DQB1*06:02-positive EHS and narcolepsy share the same susceptibility genes. In the present study, we report a genome-wide association study with replication for DQB1*06:02-negative EHS (408 patients and 2247 healthy controls, all Japanese). One single-nucleotide polymorphism, rs10988217, which is located 15-kb upstream of carnitine O-acetyltransferase (CRAT), was significantly associated with DQB1*06:02-negative EHS (P = 7.5 × 10

Indexed as

Polymorphism, Single NucleotideCarnitine O-AcetyltransferaseChromosomes, Human, Pair 9Disorders of Excessive SomnolenceFemaleGenome-Wide Association StudyHLA-DQ beta-ChainsHumansMaleCarnitine O-AcetyltransferaseHLA-DQB1 antigenHLA-DQ beta-Chains

Identifiers

PMID30266950
OpenAlexW2894176785

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.