Evidence map›Paper›PMID 35665681›Full record

ArticleEBioMedicine2022

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Tao Wang, Tingting Zhao, Liqiu Liu, Huajing Teng, Tianda Fan, Yi Li, Yan Wang, Jinchen Li, Kun Xia, Zhongsheng Sun

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

Article in EBioMedicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
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

9 citing papers in PubMed, 21 citations in OpenAlex.

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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

10 authors at 4 institutions in 1 country.

Tao WangInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China; Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China; Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Kaifu District, Changsha, Hunan 410078, China.
Tingting ZhaoInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China.
Liqiu LiuBeijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China.
Huajing TengBeijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China.
Tianda FanInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China.
Yi LiInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China.
Yan WangBeijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China.
Jinchen LiNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China. Electronic address: lijinchen@csu.edu.cn.
Kun XiaCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Kaifu District, Changsha, Hunan 410078, China; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Shanghai 200031, China; Hengyang Medical School, University of South China, Hengyang, Hunan 410078, China. Electronic address: xiakun@sklmg.edu.cn.
Zhongsheng SunInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China; Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China; Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province; CAS Center for Excellence in Biotic Interactions, University of Chinese Academy of Sciences, Beijing 100049, China; State Key Laboratory of Integrated Management of Pest Insects and Rodents, Chinese Academy of Sciences, Beijing 100101, China. Electronic address: sunzs@biols.ac.cn.
Chinese Academy of Sciences · CNWenzhou Medical University · CNCentral South University · CNChinese Nutrition Society · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutism spectrum disorder (ASD) is a neurodevelopmental disorder with high phenotypic and genetic heterogeneity. The common variants of specific oxytocin-related genes (OTRGs), particularly OXTR, are associated with the aetiology of ASD. The contribution of rare genetic variations in OTRGs to ASD aetiology remains unclear.

methodsWe catalogued publicly available de novo mutations (DNMs) [from 6,511 patients with ASD and 3,391 controls], rare inherited variants (RIVs) [from 1,786 patients with ASD and 1,786 controls], and both de novo copy number variations (dnCNVs) and inherited CNVs (ihCNVs) [from 15,581 patients with ASD and 6,017 controls] in 963 curated OTRGs to explore their contribution to ASD pathology, respectively. Finally, a combined model was designed to prioritise the contribution of each gene to ASD aetiology by integrating DNMs and CNVs.

findingsThe rare genetic variations of OTRGs were significantly associated with ASD aetiology, in the order of dnCNVs > ihCNVs > DNMs. Furthermore, 172 OTRGs and their connected 286 ASD core genes were prioritised to positively contribute to ASD aetiology, including top-ranked MAPK3. Probands carrying rare disruptive variations in these genes were estimated to account for 10∼11% of all ASD probands.

interpretationOur findings suggest that rare disruptive variations in 172 OTRGs and their connected 286 ASD core genes are associated with ASD aetiology and may be potential biomarkers predicting the effects of oxytocin treatment.

fundingGuangdong Key Project, National Natural Science Foundation of China, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province.

Indexed as

Autism Spectrum DisorderOxytocinBiomarkersDNA Copy Number VariationsGenetic Predisposition to DiseaseHumansBiomarkersOxytocinAutism spectrum disorderCombined modelMAPK3Oxytocin-related biomarkersRare genetic variations

Identifiers

PMID35665681
PMCPMC9301877
OpenAlexW4281745646

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.