Evidence map›Paper›PMID 27081536›Full record

ArticleHuman genome variation2015

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals.

Xiaoxi Liu, Minae Kawashima, Taku Miyagawa, Takeshi Otowa, Khun Zaw Latt, Myo Thiri, Hisami Nishida, Toshiro Sugiyama, Yoshinori Tsurusaki, Naomichi Matsumoto and 3 more

Erratum issuedOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 7% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024
    Article
  3. Article
  4. Article
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  6. Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 1 country.

Xiaoxi LiuDepartment of Human Genetics, Graduate School of Medicine, University of Tokyo , Tokyo, Japan.
Minae KawashimaDepartment of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan; Japan Science and Technology Agency (JST), Tokyo, Japan.
Taku MiyagawaDepartment of Human Genetics, Graduate School of Medicine, University of Tokyo , Tokyo, Japan.
Takeshi OtowaDepartment of Neuropsychiatry, Graduate School of Medicine, University of Tokyo , Tokyo, Japan.
Khun Zaw LattDepartment of Human Genetics, Graduate School of Medicine, University of Tokyo , Tokyo, Japan.
Myo ThiriDepartment of Human Genetics, Graduate School of Medicine, University of Tokyo , Tokyo, Japan.
Hisami NishidaAsunaro Hospital for Child and Adolescent Psychiatry , Tsu, Japan.
Toshiro SugiyamaDepartment of Child and Adolescent Psychiatry, Hamamatsu University School of Medicine , Hamamatsu, Japan.
Yoshinori TsurusakiDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University , Yokohama, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University , Yokohama, Japan.
Akihiko MabuchiDepartment of Human Genetics, Graduate School of Medicine, University of Tokyo , Tokyo, Japan.
Katsushi TokunagaDepartment of Human Genetics, Graduate School of Medicine, University of Tokyo , Tokyo, Japan.
Tsukasa SasakiDepartment of Physical and Health Education, Graduate School of Education, The University of Tokyo , Tokyo, Japan.
The University of Tokyo · JPYokohama City University · JPHamamatsu University School of Medicine · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The oxytocin receptor (OXTR) gene has been implicated as a risk gene for autism spectrum disorder (ASD)-a neurodevelopmental disorder with essential features of impairments in social communication and reciprocal interaction. The genetic associations between common variations in OXTR and ASD have been reported in multiple ethnic populations. However, little is known about the distribution of rare variations within OXTR in ASD patients. In this study, we resequenced the full length of OXTR in 105 ASD individuals using an approach that combined the power of next-generation sequencing technology, long-range PCR and DNA pooling. We demonstrated that rare variants with minor allele frequency as low as 0.05% could be reliably detected by our method. We identified 28 novel variants including potential functional variants in the intron region and one rare missense variant (R150S). We subsequently performed Sanger sequencing and validated five novel variants located in previously suggested candidate regions in ASD individuals. Further sequencing of 312 healthy subjects showed that the burden of rare variants is significantly higher in ASDs compared with healthy individuals. Our results support that the rare variation in OXTR gene might be involved in ASD.

Identifiers

PMID27081536
PMCPMC4785550
OpenAlexW2336763512

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.