Evidence map›Paper›PMID 20677014›Full record

ArticleHuman genetics2010

An approach based on a genome-wide association study reveals candidate loci for narcolepsy.

Mihoko Shimada, Taku Miyagawa, Minae Kawashima, Susumu Tanaka, Yutaka Honda, Makoto Honda, Katsushi Tokunaga

Abstract read
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In one paragraph

Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.7field-weighted citation impact, top 11% 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

19 citing papers in PubMed, 49 citations in OpenAlex.

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  10. Using the Coriell Personalized Medicine Collaborative Data to conduct a genome-wide association study of sleep duration.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2015
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  15. A genome-wide association study of sleep habits and insomnia.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013
    Article
  16. Article
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  18. Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2012
    Article
  19. Article
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

7 authors at 4 institutions in 2 countries.

Mihoko ShimadaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
Taku Miyagawa
Minae Kawashima
Susumu Tanaka
Yutaka Honda
Makoto Honda
Katsushi Tokunaga
The University of Tokyo · JPTokyo Institute of Psychiatry · JPNeuropsychiatric Research Institute · USPalo Alto University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness, cataplexy, and a pathological manifestation of rapid eye movement during sleep. Narcoleptic pathogenesis is triggered by both genetic and environmental factors. Recently, development of genome-wide association studies (GWAS) has identified new genetic factors, with many more susceptibility genes yet to be elucidated. Using a new approach that consists of a combination of GWAS and an extensive database search for candidate genes, we picked up 202 candidate genes and performed a replication study in 222 narcoleptic patients and 380 controls. Statistical analysis indicated that six genes, NFATC2, SCP2, CACNA1C, TCRA, POLE, and FAM3D, were associated with narcolepsy (P<0.001). Some of these associations were further supported by gene expression analyses and an association study in essential hypersomnia (EHS), CNS hypersonia similar to narcolepsy. This novel approach will be applicable to other GWAS in the search of disease-related susceptibility genes.

Indexed as

Polymorphism, Single NucleotideCalcium Channels, L-TypeCarrier ProteinsChi-Square DistributionCytokinesDNA Polymerase IIGene Expression ProfilingGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHLA-DQ AntigensHLA-DQ beta-ChainsHLA-DR AntigensHLA-DRB1 ChainsHumansCACNA1C protein, humanCalcium Channels, L-TypeCarrier ProteinsCytokinesDNA Polymerase IIFAM3D protein, humanHLA-DQ AntigensHLA-DQB1 antigenHLA-DQ beta-ChainsHLA-DR AntigensHLA-DRB1*15:01 antigenHLA-DRB1 ChainsMembrane GlycoproteinsNFATC2 protein, humanNFATC Transcription FactorsPOLE protein, humanPoly-ADP-Ribose Binding ProteinsReceptors, Antigen, T-Cell, alpha-betasterol carrier proteins

Identifiers

PMID20677014
OpenAlexW1972336119

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.