Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension / Zhengbao LING ; Tengfei LUO ; Qiao ZHOU ; Guihu ZHAO ; Bin LI ; Kun XIA ; Jinchen LI in Journal of Autism and Developmental Disorders, 54-2 (February 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.749-764 Titre : Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension Type de document : Texte imprimé et/ou numérique Auteurs : Zhengbao LING, Auteur ; Tengfei LUO, Auteur ; Qiao ZHOU, Auteur ; Guihu ZHAO, Auteur ; Bin LI, Auteur ; Kun XIA, Auteur ; Jinchen LI, Auteur Article en page(s) : p.749-764 Index. décimale : PER Périodiques Résumé : 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 and cognitive ability, decreased social problems, and enhanced repetitive behaviors; however, there was no difference in patients without DNV between those with or without PIH exposure. In addition, the DNV genes carried by patients exposed to PIH were enriched in ubiquitin-dependent proteolytic processes, highlighting how candidate genes in pathways and environments interact. The results indicate the joint contribution of DNV and PIH to ASD. En ligne : https://doi.org/10.1007/s10803-022-05824-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension [Texte imprimé et/ou numérique] / Zhengbao LING, Auteur ; Tengfei LUO, Auteur ; Qiao ZHOU, Auteur ; Guihu ZHAO, Auteur ; Bin LI, Auteur ; Kun XIA, Auteur ; Jinchen LI, Auteur . - p.749-764. in Journal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.749-764 Index. décimale : PER Périodiques Résumé : 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 and cognitive ability, decreased social problems, and enhanced repetitive behaviors; however, there was no difference in patients without DNV between those with or without PIH exposure. In addition, the DNV genes carried by patients exposed to PIH were enriched in ubiquitin-dependent proteolytic processes, highlighting how candidate genes in pathways and environments interact. The results indicate the joint contribution of DNV and PIH to ASD. En ligne : https://doi.org/10.1007/s10803-022-05824-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

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