Evidence map›Paper›PMID 35705542›Full record

SynthesisTranslational psychiatry2022

Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses.

Shuang Qiu, Yingjia Qiu, Yan Li, Xianling Cong

Registry-linked trialOpen access · goldAbstract readSystematic Review
In one paragraph

Synthesis in Translational psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07182331 (Effects of cTBS on Sensory Integration in Children With Autism Spectrum Disorder), which is not on this map. Cited by 44 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 2 pooled it
8.5field-weighted citation impact, top 1% 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.

NCT07182331 naenrolling by invitationnot on this mapstarted 2025, after this paper: background citation

Effects of cTBS on Sensory Integration in Children With Autism Spectrum Disorder: A Randomized, Sham-Controlled Study Integrating Genetic Markers, MRI, fNIRS, and Temporal Binding Tasks

TypeinterventionalSponsorNeurolab PlusRan2025 to 2026Enrolled40ConditionsAutism Spectrum Disorder (ASD)ArmsContinuous Theta Burst Stimulation to Bilateral DLPFC, Sham Continuous Theta Burst Stimulation
3 · Its place in the literature

Who cites it

44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 78 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Factors associated with abnormal screening for autism spectrum disorder among Extremely Preterm Children.Journal of perinatology : official journal of the California Perinatal Association · 2026
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  14. Journal of clinical practice and research · 2025
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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

4 authors at 2 institutions in 1 country.

Shuang QiuDepartment of Biobank, China-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin, China.
Yingjia QiuChina-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin, China.
Yan LiDepartment of Epidemiology, School of Public Health, Beihua University, Jilin, 132013, Jilin, China.
Xianling CongDepartment of Biobank, China-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin, China. congxl@jlu.edu.cn.ORCID 0000-0002-5790-4188
Jilin University · CNBeihua University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a class of neurodevelopmental conditions with a large epidemiological and societal impact worldwide. To date, numerous studies have investigated the associations between genetic variants and ASD risk. To provide a robust synthesis of published evidence of candidate gene studies for ASD, we performed an umbrella review (UR) of meta-analyses of genetic studies for ASD (PROSPERO registration number: CRD42021221868). We systematically searched eight English and Chinese databases from inception to March 31, 2022. Reviewing of eligibility, data extraction, and quality assessment were performed by two authors. In total, 28 of 5062 retrieved articles were analyzed, which investigated a combined 41 single nucleotide polymorphisms (SNPs) of nine candidate genes. Overall, 12 significant SNPs of CNTNAP2, MTHFR, OXTR, SLC25A12, and VDR were identified, of which associations with suggestive evidence included the C677T polymorphism of MTHFR (under allelic, dominant, and heterozygote models) and the rs731236 polymorphism of VDR (under allelic and homozygote models). Associations with weak evidence included the rs2710102 polymorphism of CNTNAP2 (under allelic, homozygote, and recessive models), the rs7794745 polymorphism of CNTNAP2 (under dominant and heterozygote models), the C677T polymorphism of MTHFR (under homozygote model), and the rs731236 polymorphism of VDR (under dominant and recessive models). Our UR summarizes research evidence on the genetics of ASD and provides a broad and detailed overview of risk genes for ASD. The rs2710102 and rs7794745 polymorphisms of CNTNAP2, C677T polymorphism of MTHFR, and rs731236 polymorphism of VDR may confer ASD risks. This study will provide clinicians and healthcare decision-makers with evidence-based information about the most salient candidate genes relevant to ASD and recommendations for future treatment, prevention, and research.

Indexed as

Autism Spectrum DisorderAllelesGenetic Predisposition to DiseaseHumansMeta-Analysis as TopicMethylenetetrahydrofolate Reductase (NADPH2)Polymorphism, Single NucleotideSystematic Reviews as TopicMethylenetetrahydrofolate Reductase (NADPH2)

Identifiers

PMID35705542
PMCPMC9200752
OpenAlexW4282919016

What OpenQuestion holds

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Registered trials

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.