Evidence map›Paper›PMID 32807774›Full record

ArticleTranslational psychiatry2020

Clustering by phenotype and genome-wide association study in autism.

Akira Narita, Masato Nagai, Satoshi Mizuno, Soichi Ogishima, Gen Tamiya, Masao Ueki, Rieko Sakurai, Satoshi Makino, Taku Obara, Mami Ishikuro and 15 more

Open access · goldAbstract read
In one paragraph

Article in Translational psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
4.0field-weighted citation impact, top 5% 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

27 citing papers in PubMed, 52 citations in OpenAlex.

  1. Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.medRxiv : the preprint server for health sciences · 2026
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  20. The rs7404339 AA Genotype inFrontiers in cardiovascular medicine · 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

25 authors at 2 institutions in 1 country.

Akira Narita *Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Masato Nagai *Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.ORCID http://orcid.org/0000-0003-0818-3158
Satoshi Mizuno *Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Soichi OgishimaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Gen TamiyaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Masao UekiTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Rieko SakuraiTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Satoshi MakinoTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Taku ObaraTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Mami IshikuroTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Chizuru YamanakaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Hiroko MatsubaraTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Yasutaka KuniyoshiGraduate School of Medicine, Tohoku University, Sendai, Japan.
Keiko MurakamiTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Fumihiko UenoTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Aoi NodaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Tomoko KobayashiTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Mika KobayashiTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Takuma UsuzakiTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Hisashi OhsetoTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Atsushi HozawaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Masahiro KikuyaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Hirohito MetokiTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Shigeo KureTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Shinichi KuriyamaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan. kuriyama@med.tohoku.ac.jp.ORCID http://orcid.org/0000-0002-6445-0911
Tohoku University · JPTohoku Institute of Technology · JP

Funding

MEXT | Japan Science and Technology Agency (JST) 16H05242MEXT | Japan Science and Technology Agency (JST) 19390171
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) has phenotypically and genetically heterogeneous characteristics. A simulation study demonstrated that attempts to categorize patients with a complex disease into more homogeneous subgroups could have more power to elucidate hidden heritability. We conducted cluster analyses using the k-means algorithm with a cluster number of 15 based on phenotypic variables from the Simons Simplex Collection (SSC). As a preliminary study, we conducted a conventional genome-wide association study (GWAS) with a data set of 597 ASD cases and 370 controls. In the second step, we divided cases based on the clustering results and conducted GWAS in each of the subgroups vs controls (cluster-based GWAS). We also conducted cluster-based GWAS on another SSC data set of 712 probands and 354 controls in the replication stage. In the preliminary study, which was conducted in conventional GWAS design, we observed no significant associations. In the second step of cluster-based GWASs, we identified 65 chromosomal loci, which included 30 intragenic loci located in 21 genes and 35 intergenic loci that satisfied the threshold of P < 5.0 × 10

Indexed as

Autism Spectrum DisorderAutistic DisorderCluster AnalysisForkhead Transcription FactorsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansNerve Tissue ProteinsPhenotypePolymorphism, Single NucleotideForkhead Transcription FactorsFOXK1 protein, humanNerve Tissue ProteinsSRRM4 protein, human

Identifiers

PMID32807774
PMCPMC7431539
OpenAlexW3049498686

What OpenQuestion 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 OpenQuestion graph.