Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder / Stephen K. SIECINSKI in Autism Research, 16-3 (March 2023)  

Public ISBD [article]  inAutism Research > 16-3 (March 2023) . - p.502-523 Titre : Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Stephen K. SIECINSKI, Auteur ; Stephanie N. GIAMBERARDINO, Auteur ; Marina SPANOS, Auteur ; Annalise C. HAUSER, Auteur ; Jason R. GIBSON, Auteur ; Tara CHANDRASEKHAR, Auteur ; Maria Del Pilar TRELLES, Auteur ; Carol M. ROCKHILL, Auteur ; Michelle L. PALUMBO, Auteur ; Allyson Witters CUNDIFF, Auteur ; Alicia MONTGOMERY, Auteur ; Paige SIPER, Auteur ; Mendy MINJAREZ, Auteur ; Lisa A. NOWINSKI, Auteur ; Sarah MARLER, Auteur ; Lydia C. KWEE, Auteur ; Lauren C. SHUFFREY, Auteur ; Cheryl ALDERMAN, Auteur ; Jordana WEISSMAN, Auteur ; Brooke ZAPPONE, Auteur ; Jennifer E. MULLETT, Auteur ; Hope CROSSON, Auteur ; Natalie HONG, Auteur ; Sheng LUO, Auteur ; Lilin SHE, Auteur ; Manjushri BHAPKAR, Auteur ; Russell DEAN, Auteur ; Abby SCHEER, Auteur ; Jacqueline L. JOHNSON, Auteur ; Bryan H. KING, Auteur ; Christopher J. MCDOUGLE, Auteur ; Kevin B. SANDERS, Auteur ; Soo-Jeong KIM, Auteur ; Alexander KOLEVZON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Elizabeth R. HAUSER, Auteur ; Linmarie SIKICH, Auteur ; Simon G. GREGORY, Auteur Article en page(s) : p.502-523 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We investigated whether genetic and epigenetic variation contribute to variable endogenous OT levels that modulate sensitivity to OT therapy. To carry out this analysis, we integrated genome-wide profiles of DNA-methylation, transcriptional activity, and genetic variation with plasma OT levels in 290 participants with ASD enrolled in a randomized controlled trial of OT. Our analysis identified genetic variants with novel association with plasma OT, several of which reside in known ASD risk genes. We also show subtle but statistically significant association of plasma OT levels with peripheral transcriptional activity and DNA-methylation profiles across several annotated gene sets. These findings broaden our understanding of the effects of the peripheral oxytocin system and provide novel genetic candidates for future studies to decode the complex etiology of ASD and its interaction with OT signaling and OT-based interventions. Lay Summary Oxytocin (OT) is an abundant chemical produced by neurons that plays an important role in social interaction and motivation. We investigated whether genetic and epigenetic factors contribute to variable OT levels in the blood. To this, we integrated genetic, gene expression, and non-DNA regulated (epigenetic) signatures with blood OT levels in 290 participants with autism enrolled in an OT clinical trial. We identified genetic association with plasma OT, several of which reside in known autism risk genes. We also show statistically significant association of plasma OT levels with gene expression and epigenetic across several gene pathways. These findings broaden our understanding of the factors that influence OT levels in the blood for future studies to decode the complex presentation of autism and its interaction with OT and OT-based treatment. En ligne : https://doi.org/10.1002/aur.2884 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4988 [article] Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder [Texte imprimé et/ou numérique] / Stephen K. SIECINSKI, Auteur ; Stephanie N. GIAMBERARDINO, Auteur ; Marina SPANOS, Auteur ; Annalise C. HAUSER, Auteur ; Jason R. GIBSON, Auteur ; Tara CHANDRASEKHAR, Auteur ; Maria Del Pilar TRELLES, Auteur ; Carol M. ROCKHILL, Auteur ; Michelle L. PALUMBO, Auteur ; Allyson Witters CUNDIFF, Auteur ; Alicia MONTGOMERY, Auteur ; Paige SIPER, Auteur ; Mendy MINJAREZ, Auteur ; Lisa A. NOWINSKI, Auteur ; Sarah MARLER, Auteur ; Lydia C. KWEE, Auteur ; Lauren C. SHUFFREY, Auteur ; Cheryl ALDERMAN, Auteur ; Jordana WEISSMAN, Auteur ; Brooke ZAPPONE, Auteur ; Jennifer E. MULLETT, Auteur ; Hope CROSSON, Auteur ; Natalie HONG, Auteur ; Sheng LUO, Auteur ; Lilin SHE, Auteur ; Manjushri BHAPKAR, Auteur ; Russell DEAN, Auteur ; Abby SCHEER, Auteur ; Jacqueline L. JOHNSON, Auteur ; Bryan H. KING, Auteur ; Christopher J. MCDOUGLE, Auteur ; Kevin B. SANDERS, Auteur ; Soo-Jeong KIM, Auteur ; Alexander KOLEVZON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Elizabeth R. HAUSER, Auteur ; Linmarie SIKICH, Auteur ; Simon G. GREGORY, Auteur . - p.502-523. Langues : Anglais (eng) in Autism Research > 16-3 (March 2023) . - p.502-523 Index. décimale : PER Périodiques Résumé : Abstract Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We investigated whether genetic and epigenetic variation contribute to variable endogenous OT levels that modulate sensitivity to OT therapy. To carry out this analysis, we integrated genome-wide profiles of DNA-methylation, transcriptional activity, and genetic variation with plasma OT levels in 290 participants with ASD enrolled in a randomized controlled trial of OT. Our analysis identified genetic variants with novel association with plasma OT, several of which reside in known ASD risk genes. We also show subtle but statistically significant association of plasma OT levels with peripheral transcriptional activity and DNA-methylation profiles across several annotated gene sets. These findings broaden our understanding of the effects of the peripheral oxytocin system and provide novel genetic candidates for future studies to decode the complex etiology of ASD and its interaction with OT signaling and OT-based interventions. Lay Summary Oxytocin (OT) is an abundant chemical produced by neurons that plays an important role in social interaction and motivation. We investigated whether genetic and epigenetic factors contribute to variable OT levels in the blood. To this, we integrated genetic, gene expression, and non-DNA regulated (epigenetic) signatures with blood OT levels in 290 participants with autism enrolled in an OT clinical trial. We identified genetic association with plasma OT, several of which reside in known autism risk genes. We also show statistically significant association of plasma OT levels with gene expression and epigenetic across several gene pathways. These findings broaden our understanding of the factors that influence OT levels in the blood for future studies to decode the complex presentation of autism and its interaction with OT and OT-based treatment. En ligne : https://doi.org/10.1002/aur.2884 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4988

Intestinal Predictors of Whole Blood Serotonin Levels in Children With or Without Autism / Miranda ZUNIGA-KENNEDY in Journal of Autism and Developmental Disorders, 52-9 (September 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-9 (September 2022) . - p.3780-3789 Titre : Intestinal Predictors of Whole Blood Serotonin Levels in Children With or Without Autism Type de document : Texte imprimé et/ou numérique Auteurs : Miranda ZUNIGA-KENNEDY, Auteur ; Micah DAVOREN, Auteur ; Lauren C. SHUFFREY, Auteur ; Ruth Ann LUNA, Auteur ; Tor SAVIDGE, Auteur ; Vinay PRASAD, Auteur ; George M. ANDERSON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Kent C. WILLIAMS, Auteur Article en page(s) : p.3780-3789 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Biomarkers  Child  Humans  Male  Serotonin  Autism  Hyperserotonemia  Immunity  Whole blood serotonin Index. décimale : PER Périodiques Résumé : Hyperserotonemia, or elevated levels of whole blood serotonin (WB5-HT), was the first biomarker linked to autism spectrum disorder (ASD). Despite numerous studies investigating the etiology of hyperserotonemia, results have been inconsistent. Recent findings suggest a relationship between the immune system and hyperserotonemia. The current study investigated whether intestinal 5-HT levels, 5-HT gene expression, or intestinal cell types predict WB5-HT. Participants included thirty-one males aged 3-18 who were classified into one of three groups: ASD and functional GI issues, typically developing with GI issues, and typically developing without GI issues. Samples from a lower endoscopy were analyzed to examine the pathways in predicting WB-5HT. Results demonstrated an association between T-Lymphocytes and WB5-HT. En ligne : http://dx.doi.org/10.1007/s10803-022-05597-w Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4857 [article] Intestinal Predictors of Whole Blood Serotonin Levels in Children With or Without Autism [Texte imprimé et/ou numérique] / Miranda ZUNIGA-KENNEDY, Auteur ; Micah DAVOREN, Auteur ; Lauren C. SHUFFREY, Auteur ; Ruth Ann LUNA, Auteur ; Tor SAVIDGE, Auteur ; Vinay PRASAD, Auteur ; George M. ANDERSON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Kent C. WILLIAMS, Auteur . - p.3780-3789. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-9 (September 2022) . - p.3780-3789 Mots-clés : Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Biomarkers  Child  Humans  Male  Serotonin  Autism  Hyperserotonemia  Immunity  Whole blood serotonin Index. décimale : PER Périodiques Résumé : Hyperserotonemia, or elevated levels of whole blood serotonin (WB5-HT), was the first biomarker linked to autism spectrum disorder (ASD). Despite numerous studies investigating the etiology of hyperserotonemia, results have been inconsistent. Recent findings suggest a relationship between the immune system and hyperserotonemia. The current study investigated whether intestinal 5-HT levels, 5-HT gene expression, or intestinal cell types predict WB5-HT. Participants included thirty-one males aged 3-18 who were classified into one of three groups: ASD and functional GI issues, typically developing with GI issues, and typically developing without GI issues. Samples from a lower endoscopy were analyzed to examine the pathways in predicting WB-5HT. Results demonstrated an association between T-Lymphocytes and WB5-HT. En ligne : http://dx.doi.org/10.1007/s10803-022-05597-w Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4857

Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? / Lauren C. SHUFFREY in Autism Research, 10-8 (August 2017)  

Public ISBD [article]  inAutism Research > 10-8 (August 2017) . - p.1417-1423 Titre : Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? Type de document : Texte imprimé et/ou numérique Auteurs : Lauren C. SHUFFREY, Auteur ; Stephen J. GUTER, Auteur ; Shannon DELANEY, Auteur ; Suma JACOB, Auteur ; George M. ANDERSON, Auteur ; James S. SUTCLIFFE, Auteur ; Edwin H. Jr COOK, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.1417-1423 Langues : Anglais (eng) Mots-clés : serotonin  5-HT  autism spectrum disorder  hyperserotonemia Index. décimale : PER Périodiques Résumé : Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P?=?0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. En ligne : http://dx.doi.org/10.1002/aur.1791 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3104 [article] Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? [Texte imprimé et/ou numérique] / Lauren C. SHUFFREY, Auteur ; Stephen J. GUTER, Auteur ; Shannon DELANEY, Auteur ; Suma JACOB, Auteur ; George M. ANDERSON, Auteur ; James S. SUTCLIFFE, Auteur ; Edwin H. Jr COOK, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.1417-1423. Langues : Anglais (eng) in Autism Research > 10-8 (August 2017) . - p.1417-1423 Mots-clés : serotonin  5-HT  autism spectrum disorder  hyperserotonemia Index. décimale : PER Périodiques Résumé : Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P?=?0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. En ligne : http://dx.doi.org/10.1002/aur.1791 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3104

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