Evidence map›Paper›PMID 39280100›Full record

ArticleFrontiers in genetics2024

Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing.

Yuka Shiota, Tomoaki Nishiyama, Shigeru Yokoyama, Yuko Yoshimura, Chiaki Hasegawa, Sanae Tanaka, Sumie Iwasaki, Mitsuru Kikuchi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2024. 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
–field-weighted citation impact
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.

  1. Article
  2. Review
  3. Association ofJournal of clinical medicine · 2024
    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

8 authors.

Yuka ShiotaJapan Society for the Promotion of Science, Tokyo, Japan.
Tomoaki NishiyamaResearch Center for Experimental Modeling of Human Disease, Kanazawa University, Kanazawa, Japan.
Shigeru YokoyamaResearch Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
Yuko YoshimuraUnited Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University, and University of Fukui, Kanazawa, Japan.
Chiaki HasegawaResearch Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
Sanae TanakaResearch Center for Child Mental Development, Kanazawa University, Kanazawa, Japan.
Sumie IwasakiJapan Society for the Promotion of Science, Tokyo, Japan.
Mitsuru KikuchiUnited Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University, and University of Fukui, Kanazawa, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Autism spectrum disorders (ASD) represent a heterogeneous group of neurodevelopmental disorders with strong genetic predispositions. Although an increasing number of genetic variants have been implicated in the pathogenesis of ASD, little is known about the relationship between ASD-associated genetic variants and individual ASD traits. Therefore, we aimed to investigate these relationships. Methods: Here, we report a case-control association study of 32 Japanese children with ASD (mainly with high-functioning autism [HFA]) and 36 with typical development (TD). We explored previously established ASD-associated genes using a next-generation sequencing panel and determined the association between Social Responsiveness Scale (SRS) T-scores and intelligence quotient (IQ) scores. Results: In the genotype-phenotype analyses, 40 variants of five genes ( Conclusion: Our data suggest that these identified variants are essential for the genetic architecture of HFA.

Indexed as

autism spectrum disordercommon variantgenetic architecturehigh-functioning autismnext-generation sequencingsingle-nucleotide polymorphismsocial responsiveness scale

Identifiers

PMID39280100
PMCPMC11395840

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.