Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension

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成果类型：

期刊论文

作者：

Wang, Xiaomeng;Ling, Zhengbao;Luo, Tengfei;Zhou, Qiao;Zhao, Guihu;...

通讯作者：

Kun Xia<&wdkj&>Jinchen Li

作者机构：

[Wang, Xiaomeng; Zhao, Guihu; Li, Bin; Zhou, Qiao; Li, Jinchen] Cent South Univ, Xiangya Hosp, Dept Geriatr, Changsha 41008, Hunan, Peoples R China.

[Luo, Tengfei; Wang, Xiaomeng; Xia, Kun; Li, Jinchen; Ling, Zhengbao] Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 41008, Hunan, Peoples R China.

[Zhao, Guihu; Li, Bin; Li, Jinchen] Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China.

[Zhao, Guihu; Li, Bin; Zhou, Qiao; Li, Jinchen] Cent South Univ, Xiangya Hosp, Bioinformat Ctr, Natl Clin Res Ctr Geriatr Disorders, Changsha, Hunan, Peoples R China.

[Xia, Kun] Univ South China, Hengyang, Hunan, Peoples R China.

通讯机构：

[Kun Xia] C

[Jinchen Li] D

Centre for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China<&wdkj&>University of South China, Hengyang, China<&wdkj&>Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China<&wdkj&>Centre for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China<&wdkj&>Department of Neurology, Xiangya Hospital, Central South University, Changsha, China<&wdkj&>Bioinformatics Center, National Clinical Research Centre for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China

语种：

英文

关键词：

Autism spectrum disorder;Symptoms;De novo variant;Pregnancy-induced hypertension;Gene ontology;Ubiquitin-dependent protein catabolic process

期刊：

Journal of Autism and Developmental Disorders

ISSN：

0162-3257

年：

2024

卷：

期：

页码：

749-764

DOI：

10.1007/s10803-022-05824-4

基金类别：

Hunan Natural Science Foundation Outstanding Youth Fund [2020JJ3059]; Science and Technology Major Project of Hunan Provincial Science and Technology Department [2018SK1030]; Hunan Youth Science and Technology Innovation Talent Project [2020RC3060]; National Natural Science Foundation of China [81730036, 81801133]; Bioinformatics Center, Xiangya Hospital, Central South University; National Clinical Research Centre for Geriatric Disorders, Xiangya Hospital, Central South University; Department of Geriatrics, Xiangya Hospital, Central South University; High Performance Computing Center of Central South University

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本校为其他机构

摘要：

Genetic factors, particularly, de novo variants (DNV), and an environment factor, exposure to pregnancy-induced hypertension (PIH), were reported to be associated with risk of autism spectrum disorder (ASD); however, how they jointly affect the severity of ASD symptom is unclear. We assessed the severity of core ASD symptoms affected by functional de novo variants or PIH. We selected phenotype data from Simon's Simplex Collection database, used genotypes from previous studies, and created linear regression models. We found that ASD patients carrying DNV with PIH exposure had increased adaptive...

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Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension

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