Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder

doi:10.1016/j.csbj.2023.05.015

科研成果详情

题名	Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder
作者	Wang, Tao 1,2; Liu, Liqiu 2; Fan, Tianda 1,3; Xia, Kun 1,4,5; Sun, Zhongsheng2,3,6,7
发表日期	2023
发表期刊	Computational and Structural Biotechnology Journal 影响因子和分区
语种	英语
原始文献类型	Journal article (JA)
关键词	Diseases Logistic regression Autism spectrum disorders Combined modeling Copy number variations Divergents Genetic variants Genetic variation Normal controls Oxytocin Rare genetic variant Vitamin A
其他关键词	RETINOIC ACID ; GENES ; RISK ; MUTATIONS ; ASSOCIATION ; RECEPTOR ; PROTEIN
摘要	Rare genetic variations contribute to the heterogeneity of autism spectrum disorder (ASD) and the responses to various interventions for ASD probands. However, the associated molecular underpinnings remain unclear. Herein, we estimated the association between rare genetic variations in 410 vitamin A (VA)-related genes (VARGs) and ASD aetiology using publicly available de novo mutations (DNMs), rare inherited variants, and copy number variations (CNVs) from about 50,000 ASD probands and 20,000 normal controls (discovery and validation cohorts). Additionally, given the functional relevance of VA and oxytocin, we systematically compared the similarities and differences between VA and oxytocin with respect to ASD aetiology and evaluated their potential for clinical applications. Functional DNMs and pathogenic CNVs in VARGs contributed to ASD pathogenesis in the discovery and validation cohorts. Additionally, 324 potential VA-related biomarkers were identified, 243 of which were shared with previously identified oxytocin-related biomarkers, while 81 were unique VA biomarkers. Moreover, multivariable logistic regression analysis revealed that both VA- and oxytocin-related biomarkers were able to predict ASD aetiology for individuals carrying functional DNM in corresponding biomarkers with an average precision of 0.94. As well as, convergent and divergent functions were also identified between VA- and oxytocin-related biomarkers. The findings of this study provide a basis for future studies aimed at understanding the pathophysiological mechanisms underlying ASD while also defining a set of potential molecular biomarkers for adjuvant diagnosis and intervention in ASD. © 2023 The Authors
资助项目	Guangdong Key Project Early diagnosis and treatment of autism spectrum disorders [202007030002]; Guangdong Key Project Development of new tools for diagnosis and treatment of Autism [2018B030335001]; National Natural Science Foundation of China [31871191, XDPB16, 2021SK1010]; Strategic Priority Research Program of Chinese Academy of Sciences [82130043]; Science and Technology Major Project of Hunan Provincial Science and Technology Department [81730036]
出版者	Elsevier B.V.
ISSN	2001-0370
EISSN	2001-0370
卷号	21 页码:3109-3123
DOI	10.1016/j.csbj.2023.05.015
页数	15
WOS类目	Biochemistry & Molecular Biology ; Biotechnology & Applied Microbiology
WOS研究方向	Biochemistry & Molecular Biology ; Biotechnology & Applied Microbiology
WOS记录号	WOS:001053636000001
收录类别	EI ; SCIE ; SCOPUS
在线发表日期	2023-05
EI入藏号	20232314179101
EI主题词	Biomarkers
EI分类号	922.2 Mathematical Statistics
URL	查看原文
PubMed ID	38213898
SCOPUSEID	2-s2.0-85160650229
通讯作者地址	[Xia, Kun]Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics,School of Life Sciences,Central South University,Kaifu District, Hunan,Changsha,410078,China ; [Sun, Zhongsheng]Beijing Institutes of Life Science,Chinese Academy of Sciences,Beijing,100101,China
Scopus学科分类	Biotechnology;Biophysics;Structural Biology;Biochemistry;Genetics;Computer Science Applications
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/181145
专题	基因组医学研究院
通讯作者	Xia, Kun; Sun, Zhongsheng
作者单位	1.Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics,School of Life Sciences,Central South University,Kaifu District, Hunan,Changsha,410078,China; 2.Beijing Institutes of Life Science,Chinese Academy of Sciences,Beijing,100101,China; 3.Institute of Genomic Medicine,Wenzhou Medical University,Zhejiang,Wenzhou,325025,China; 4.CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT),Shanghai,200031,China; 5.Hengyang Medical School,University of South China,Hunan,Hengyang,410078,China; 6.CAS Center for Excellence in Biotic Interactions,University of Chinese Academy of Sciences,Beijing,100049,China; 7.State Key Laboratory of Integrated Management of Pest Insects and Rodents,Chinese Academy of Sciences,Beijing,100101,China
推荐引用方式 GB/T 7714	Wang, Tao,Liu, Liqiu,Fan, Tianda,et al. Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder[J]. Computational and Structural Biotechnology Journal,2023,21:3109-3123.
APA	Wang, Tao, Liu, Liqiu, Fan, Tianda, Xia, Kun, & Sun, Zhongsheng. (2023). Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder. Computational and Structural Biotechnology Journal, 21, 3109-3123.
MLA	Wang, Tao,et al."Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder".Computational and Structural Biotechnology Journal 21(2023):3109-3123.