Evidence map›Paper›PMID 35079012›Full record

ArticleScientific reports2022

GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion.

Mariko Kasai, Yosuke Omae, Yosuke Kawai, Akiko Shibata, Ai Hoshino, Masashi Mizuguchi, Katsushi Tokunaga

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.3field-weighted citation impact, top 19% 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

10 citing papers in PubMed, 13 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Genetic variants for Alzheimer's disease and comorbid conditions.Journal of Alzheimer's disease : JAD · 2024
    Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. Association ofFrontiers in neurology · 2022
    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 2 institutions in 1 country.

Mariko KasaiDepartment of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, School of Medicine Bldg. 3, Rm. N205, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-0033, Japan. kasaim-tky@umin.ac.jp.
Yosuke OmaeGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Yosuke KawaiGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Akiko ShibataDepartment of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, School of Medicine Bldg. 3, Rm. N205, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-0033, Japan.
Ai HoshinoDepartment of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, School of Medicine Bldg. 3, Rm. N205, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-0033, Japan.
Masashi MizuguchiDepartment of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, School of Medicine Bldg. 3, Rm. N205, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-0033, Japan.
Katsushi TokunagaGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
The University of Tokyo · JPNational Center for Global Health and Medicine · JP

Funding

Grant-in-aid for Policy Research for Intractable Diseases No. H30-Nanji-Ippan-007/21FC1005Grant-in-Aid for Scientific Research No. 15H04872
6 · The paper itself

Abstract

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a severe encephalopathy preceded by viral infections with high fever. AESD is a multifactorial disease, however, few disease susceptibility genes have previously been identified. Here, we conducted a genome-wide association study (GWAS) and assessed functional variants in non-coding regions to study genetic susceptibility in AESD using 254 Japanese children with AESD and 799 adult healthy controls. We also performed a microRNA enrichment analysis using GWAS statistics to search for candidate biomarkers in AESD. The variant with the lowest p-value, rs1850440, was located in the intron of serine/threonine kinase 39 gene (STK39) on chromosome 2q24.3 (p = 2.44 × 10

Indexed as

AdolescentAdultBiomarkersBrain DiseasesChildFemaleHumansJapanMaleProtein Serine-Threonine KinasesSeizuresYoung AdultBiomarkersProtein Serine-Threonine KinasesSTK39 protein, human

Identifiers

PMID35079012
PMCPMC8789807
OpenAlexW4220877533

What OpenQuestion holds

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LicenceCC BY
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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.