Evidence map›Paper›PMID 40483526›Full record

ArticleBehavioral and brain functions : BBF2025

Unraveling genetic risk contributions to nonverbal status in autism spectrum disorder probands.

Huan Liu, Shenghan Wang, Binbin Cao, Jijun Zhu, Zhifang Huang, Pan Li, Shunjie Zhang, Xian Liu, Jing Yu, Zhongting Huang and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Behavioral and brain functions : BBF, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

20 authors.

Huan Liu *Department of Behavioral Development, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Shenghan Wang *Center for Intelligent Medicine, Greater Bay Area Institute of Precision Medicine (Guangzhou), School of Life Sciences, Fudan University, Shanghai, China.
Binbin Cao *Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Jijun ZhuCenter for Intelligent Medicine, Greater Bay Area Institute of Precision Medicine (Guangzhou), School of Life Sciences, Fudan University, Shanghai, China.
Zhifang HuangDepartment of Behavioral Development, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Pan LiCenter for Intelligent Medicine, Greater Bay Area Institute of Precision Medicine (Guangzhou), School of Life Sciences, Fudan University, Shanghai, China.
Shunjie ZhangCenter for Intelligent Medicine, Greater Bay Area Institute of Precision Medicine (Guangzhou), School of Life Sciences, Fudan University, Shanghai, China.
Xian LiuDepartment of Behavioral Development, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Jing YuDepartment of Behavioral Development, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Zhongting HuangCenter for Intelligent Medicine, Greater Bay Area Institute of Precision Medicine (Guangzhou), School of Life Sciences, Fudan University, Shanghai, China.
Linzhuo LvDepartment of Behavioral Development, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Fuqiang CaiSchool of Biology and Biological Engineering, South China University of Technology, Guangzhou, China.
Weixin LiuSchool of Biology and Biological Engineering, South China University of Technology, Guangzhou, China.
Zhijian SongSchool of Biology and Biological Engineering, South China University of Technology, Guangzhou, China.
Yuxin LiuCenter for Intelligent Medicine, Greater Bay Area Institute of Precision Medicine (Guangzhou), School of Life Sciences, Fudan University, Shanghai, China.
Tao PangNHC Key Laboratory of Mental Health (Peking University), Peking University Sixth Hospital, Peking University Institute of Mental Health, National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing, China.
Suhua ChangNHC Key Laboratory of Mental Health (Peking University), Peking University Sixth Hospital, Peking University Institute of Mental Health, National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing, China.
Ying ChenDepartment of Behavioral Development, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Junfang ChenCenter for Intelligent Medicine, Greater Bay Area Institute of Precision Medicine (Guangzhou), School of Life Sciences, Fudan University, Shanghai, China. junfang_chen@fudan.edu.cn.
Wen-Xiong ChenDepartment of Behavioral Development, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China. gzchcwx@126.com.ORCID http://orcid.org/0000-0001-9076-2006

Funding

Brain Science and Brain-like Research major project of Ministry of Science and Technology of China 2021ZD0200522-07Greater Bay Area Institute of Precision Medicine (Guangzhou) I0007Guangdong Provincial Health Commission Suitable Technology Promotion Project 202303192222167450Guangzhou Science and Technology plan City School (College) joint funding project 202102010232major Scientific and Technological Projects of Brain Science and Brain-like Research of Guangzhou 202007030002National Social Science Fund of China 32370639National Social Science Fund of China 82471565Natural Science Foundation of Guangdong Province 2024A1515012116
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) presents a wide range of cognitive and language impairments. In this study, we investigated the genetic basis of non-verbal status in ASD using a comprehensive genomic approach. We identified a novel common variant, rs1944180 in CNTN5, significantly associated with non-verbal status through family-based Transmission Disequilibrium Testing. Polygenic risk score (PRS) analysis further showed that higher ASD PRS was significantly linked to non-verbal status (p = 0.034), specific to ASD and not related to other conditions such as bipolar disorder, schizophrenia and three language-related traits. Using structural equation modeling (SEM), we found two causal SNPs, rs1247761 located in KCNMA1 and rs2524290 in RAB3IL1, linking ASD with language traits. The model indicated a unidirectional effect, with ASD driving language impairments. Additionally, de novo mutations (DNMs) were found to be related with ASD and interaction between common variants and DNMs significantly impacted non-verbal status (p = 0.038). Our findings also identified 5 high-risk ASD genes, and DNMs were enriched in glycosylation-related pathways. These results offer new insights into the genetic mechanisms underlying language deficits in ASD.

Indexed as

Autism Spectrum DisorderNonverbal CommunicationAdolescentAdultChildFemaleGenetic Predisposition to DiseaseHumansMaleMultifactorial InheritancePolymorphism, Single NucleotideAutism spectrum disorderCommon variantsDe Novo mutationsNon-verbal statusWhole-exome sequencing

Identifiers

PMID40483526
PMCPMC12144768

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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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.