Association and gene–gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population / Yidong SHEN in Autism Research, 9-4 (April 2016)  

Public ISBD [article]  inAutism Research > 9-4 (April 2016) . - p.436-442 Titre : Association and gene–gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population Type de document : Texte imprimé et/ou numérique Auteurs : Yidong SHEN, Auteur ; Guanglei XUN, Auteur ; Hui GUO, Auteur ; Yiqun HE, Auteur ; Jianjun OU, Auteur ; Huixi DONG, Auteur ; Kun XIA, Auteur ; Jingping ZHAO, Auteur Article en page(s) : p.436-442 Langues : Anglais (eng) Mots-clés : autism  reelin  signaling pathway  interaction  polymorphism Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder with unclear etiology. Reelin had been proposed to participate in the etiology of autism due to its important role in brain development. The goal of this study was to explore the association and gene–gene interactions of reelin signaling pathway related genes (RELN, VLDLR, LRP8, DAB1, FYN, and CDK5) with autism in Han Chinese population. Genotyping data of the six genes were obtained from a recent genome-wide association study performed in 430 autistic children who fulfilled the DSM-IV-TR criteria for autistic disorder, and 1,074 healthy controls. Single marker case-control association analysis and haplotype case-control association analysis were conducted after the data was screened. Multifactor dimensionality reduction (MDR) was applied to further test gene–gene interactions. Neither the single marker nor the haplotype association tests found any significant difference between the autistic group and the control group after permutation test of 1,000 rounds. The 4-locus MDR model (comprising rs6143734, rs1858782, rs634500, and rs1924267 which belong to RELN and DAB1) was determined to be the model with the highest cross-validation consistency (CVC) and testing balanced accuracy. The results indicate that an interaction between RELN and DAB1 may increase the risk of autism in the Han Chinese population. Furthermore, it can also be inferred that the involvement of RELN in the etiology of autism would occur through interaction with DAB1. Autism Res 2016, 9: 436–442. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1540 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=287 [article] Association and gene–gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population [Texte imprimé et/ou numérique] / Yidong SHEN, Auteur ; Guanglei XUN, Auteur ; Hui GUO, Auteur ; Yiqun HE, Auteur ; Jianjun OU, Auteur ; Huixi DONG, Auteur ; Kun XIA, Auteur ; Jingping ZHAO, Auteur . - p.436-442. Langues : Anglais (eng) in Autism Research > 9-4 (April 2016) . - p.436-442 Mots-clés : autism  reelin  signaling pathway  interaction  polymorphism Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder with unclear etiology. Reelin had been proposed to participate in the etiology of autism due to its important role in brain development. The goal of this study was to explore the association and gene–gene interactions of reelin signaling pathway related genes (RELN, VLDLR, LRP8, DAB1, FYN, and CDK5) with autism in Han Chinese population. Genotyping data of the six genes were obtained from a recent genome-wide association study performed in 430 autistic children who fulfilled the DSM-IV-TR criteria for autistic disorder, and 1,074 healthy controls. Single marker case-control association analysis and haplotype case-control association analysis were conducted after the data was screened. Multifactor dimensionality reduction (MDR) was applied to further test gene–gene interactions. Neither the single marker nor the haplotype association tests found any significant difference between the autistic group and the control group after permutation test of 1,000 rounds. The 4-locus MDR model (comprising rs6143734, rs1858782, rs634500, and rs1924267 which belong to RELN and DAB1) was determined to be the model with the highest cross-validation consistency (CVC) and testing balanced accuracy. The results indicate that an interaction between RELN and DAB1 may increase the risk of autism in the Han Chinese population. Furthermore, it can also be inferred that the involvement of RELN in the etiology of autism would occur through interaction with DAB1. Autism Res 2016, 9: 436–442. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1540 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=287

Efficacy of Sulforaphane in Treatment of Children with Autism Spectrum Disorder: A Randomized Double-Blind Placebo-Controlled Multi-center Trial / Robert C. SMITH ; Russell H. TOBE ; Jingjing LIN ; Jen ARRIAZA ; Jed W. FAHEY ; Ruiting LIU ; Ying ZENG ; Yanan LIU ; Lian HUANG ; Yidong SHEN ; Yamin LI ; Daomeng CHENG ; Brian CORNBLATT ; John M. DAVIS ; Jingping ZHAO ; Renrong WU ; Hua JIN 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.628-641 Titre : Efficacy of Sulforaphane in Treatment of Children with Autism Spectrum Disorder: A Randomized Double-Blind Placebo-Controlled Multi-center Trial Type de document : Texte imprimé et/ou numérique Auteurs : Robert C. SMITH, Auteur ; Russell H. TOBE, Auteur ; Jingjing LIN, Auteur ; Jen ARRIAZA, Auteur ; Jed W. FAHEY, Auteur ; Ruiting LIU, Auteur ; Ying ZENG, Auteur ; Yanan LIU, Auteur ; Lian HUANG, Auteur ; Yidong SHEN, Auteur ; Yamin LI, Auteur ; Daomeng CHENG, Auteur ; Brian CORNBLATT, Auteur ; John M. DAVIS, Auteur ; Jingping ZHAO, Auteur ; Renrong WU, Auteur ; Hua JIN, Auteur Article en page(s) : p.628-641 Index. décimale : PER Périodiques Résumé : Sulforaphane has been reported to possibly improve core symptoms associated with autism spectrum disorders from mostly small size studies. Here we present results of a larger randomized clinical trial (N?=?108) in China. There were no significant changes in caregiver rated scales between sulforaphane and placebo groups. However, clinician rated scales showed a significant improvement in the sulforaphane group, and one third of participants showed at least a 30% decrease in score by 12 weeks treatment. The effects of sulforaphane were seen across the full range of intelligence and greater in participants over 10 years. Sulforaphane was safe and well-tolerated even for young children. The inconsistent results between caregiver and clinician rated scales suggest more clinical trials are needed to confirm our findings. En ligne : https://doi.org/10.1007/s10803-022-05784-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Efficacy of Sulforaphane in Treatment of Children with Autism Spectrum Disorder: A Randomized Double-Blind Placebo-Controlled Multi-center Trial [Texte imprimé et/ou numérique] / Robert C. SMITH, Auteur ; Russell H. TOBE, Auteur ; Jingjing LIN, Auteur ; Jen ARRIAZA, Auteur ; Jed W. FAHEY, Auteur ; Ruiting LIU, Auteur ; Ying ZENG, Auteur ; Yanan LIU, Auteur ; Lian HUANG, Auteur ; Yidong SHEN, Auteur ; Yamin LI, Auteur ; Daomeng CHENG, Auteur ; Brian CORNBLATT, Auteur ; John M. DAVIS, Auteur ; Jingping ZHAO, Auteur ; Renrong WU, Auteur ; Hua JIN, Auteur . - p.628-641. in Journal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.628-641 Index. décimale : PER Périodiques Résumé : Sulforaphane has been reported to possibly improve core symptoms associated with autism spectrum disorders from mostly small size studies. Here we present results of a larger randomized clinical trial (N?=?108) in China. There were no significant changes in caregiver rated scales between sulforaphane and placebo groups. However, clinician rated scales showed a significant improvement in the sulforaphane group, and one third of participants showed at least a 30% decrease in score by 12 weeks treatment. The effects of sulforaphane were seen across the full range of intelligence and greater in participants over 10 years. Sulforaphane was safe and well-tolerated even for young children. The inconsistent results between caregiver and clinician rated scales suggest more clinical trials are needed to confirm our findings. En ligne : https://doi.org/10.1007/s10803-022-05784-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders / Lu XIA in Autism Research, 13-3 (March 2020)  

Public ISBD [article]  inAutism Research > 13-3 (March 2020) . - p.382-396 Titre : Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : Lu XIA, Auteur ; Jianjun OU, Auteur ; Kuokuo LI, Auteur ; Hui GUO, Auteur ; Zhengmao HU, Auteur ; Ting BAI, Auteur ; Jingping ZHAO, Auteur ; Kun XIA, Auteur ; Fengyu ZHANG, Auteur Article en page(s) : p.382-396 Langues : Anglais (eng) Mots-clés : autism  genome-wide association study  neuropsychiatric disorders  transmission disequilibrium test Index. décimale : PER Périodiques Résumé : Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 x 10(-05) ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 x 10(-05) ) and rs7274133 (OR = 0.313, P = 3.22 x 10(-05) ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 x 10(-05) ) at EEF1A2. Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome-wide significance in the two samples of our study, they have been reported in a previous genome-wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis-regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382-396. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders. En ligne : http://dx.doi.org/10.1002/aur.2229 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421 [article] Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders [Texte imprimé et/ou numérique] / Lu XIA, Auteur ; Jianjun OU, Auteur ; Kuokuo LI, Auteur ; Hui GUO, Auteur ; Zhengmao HU, Auteur ; Ting BAI, Auteur ; Jingping ZHAO, Auteur ; Kun XIA, Auteur ; Fengyu ZHANG, Auteur . - p.382-396. Langues : Anglais (eng) in Autism Research > 13-3 (March 2020) . - p.382-396 Mots-clés : autism  genome-wide association study  neuropsychiatric disorders  transmission disequilibrium test Index. décimale : PER Périodiques Résumé : Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 x 10(-05) ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 x 10(-05) ) and rs7274133 (OR = 0.313, P = 3.22 x 10(-05) ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 x 10(-05) ) at EEF1A2. Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome-wide significance in the two samples of our study, they have been reported in a previous genome-wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis-regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382-396. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders. En ligne : http://dx.doi.org/10.1002/aur.2229 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421

Shared atypical default mode and salience network functional connectivity between autism and schizophrenia / Heng CHEN in Autism Research, 10-11 (November 2017)  

Public ISBD [article]  inAutism Research > 10-11 (November 2017) . - p.1776-1786 Titre : Shared atypical default mode and salience network functional connectivity between autism and schizophrenia Type de document : Texte imprimé et/ou numérique Auteurs : Heng CHEN, Auteur ; Lucina Q. UDDIN, Auteur ; Xujun DUAN, Auteur ; Junjie ZHENG, Auteur ; Zhiliang LONG, Auteur ; Youxue ZHANG, Auteur ; Xiaonan GUO, Auteur ; Yan ZHANG, Auteur ; Jingping ZHAO, Auteur ; Huafu CHEN, Auteur Article en page(s) : p.1776-1786 Langues : Anglais (eng) Mots-clés : schizophrenia  autism spectrum disorder  functional connectivity  multivariate pattern analysis  default mode network  salience network Index. décimale : PER Périodiques Résumé : Schizophrenia and autism spectrum disorder (ASD) are two prevalent neurodevelopmental disorders sharing some similar genetic basis and clinical features. The extent to which they share common neural substrates remains unclear. Resting-state fMRI data were collected from 35 drug-naïve adolescent participants with first-episode schizophrenia (15.6?±?1.8 years old) and 31 healthy controls (15.4?±?1.6 years old). Data from 22 participants with ASD (13.1?±?3.1 years old) and 21 healthy controls (12.9?±?2.9 years old) were downloaded from the Autism Brain Imaging Data Exchange. Resting-state functional networks were constructed using predefined regions of interest. Multivariate pattern analysis combined with multi-task regression feature selection methods were conducted in two datasets separately. Classification between individuals with disorders and controls was achieved with high accuracy (schizophrenia dataset: accuracy?=?83%; ASD dataset: accuracy?=?80%). Shared atypical brain connections contributing to classification were mostly present in the default mode network (DMN) and salience network (SN). These functional connections were further related to severity of social deficits in ASD (p?=?0.002). Distinct atypical connections were also more related to the DMN and SN, but showed different atypical connectivity patterns between the two disorders. These results suggest some common neural mechanisms contributing to schizophrenia and ASD, and may aid in understanding the pathology of these two neurodevelopmental disorders. Autism Res 2017, 10: 1776–1786. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay summary Autism spectrum disorder (ASD) and schizophrenia are two common neurodevelopmental disorders which share several genetic and behavioral features. The present study identified common neural mechanisms contributing to ASD and schizophrenia using resting-state functional MRI data. The results may help to understand the pathology of these two neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1002/aur.1834 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322 [article] Shared atypical default mode and salience network functional connectivity between autism and schizophrenia [Texte imprimé et/ou numérique] / Heng CHEN, Auteur ; Lucina Q. UDDIN, Auteur ; Xujun DUAN, Auteur ; Junjie ZHENG, Auteur ; Zhiliang LONG, Auteur ; Youxue ZHANG, Auteur ; Xiaonan GUO, Auteur ; Yan ZHANG, Auteur ; Jingping ZHAO, Auteur ; Huafu CHEN, Auteur . - p.1776-1786. Langues : Anglais (eng) in Autism Research > 10-11 (November 2017) . - p.1776-1786 Mots-clés : schizophrenia  autism spectrum disorder  functional connectivity  multivariate pattern analysis  default mode network  salience network Index. décimale : PER Périodiques Résumé : Schizophrenia and autism spectrum disorder (ASD) are two prevalent neurodevelopmental disorders sharing some similar genetic basis and clinical features. The extent to which they share common neural substrates remains unclear. Resting-state fMRI data were collected from 35 drug-naïve adolescent participants with first-episode schizophrenia (15.6?±?1.8 years old) and 31 healthy controls (15.4?±?1.6 years old). Data from 22 participants with ASD (13.1?±?3.1 years old) and 21 healthy controls (12.9?±?2.9 years old) were downloaded from the Autism Brain Imaging Data Exchange. Resting-state functional networks were constructed using predefined regions of interest. Multivariate pattern analysis combined with multi-task regression feature selection methods were conducted in two datasets separately. Classification between individuals with disorders and controls was achieved with high accuracy (schizophrenia dataset: accuracy?=?83%; ASD dataset: accuracy?=?80%). Shared atypical brain connections contributing to classification were mostly present in the default mode network (DMN) and salience network (SN). These functional connections were further related to severity of social deficits in ASD (p?=?0.002). Distinct atypical connections were also more related to the DMN and SN, but showed different atypical connectivity patterns between the two disorders. These results suggest some common neural mechanisms contributing to schizophrenia and ASD, and may aid in understanding the pathology of these two neurodevelopmental disorders. Autism Res 2017, 10: 1776–1786. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay summary Autism spectrum disorder (ASD) and schizophrenia are two common neurodevelopmental disorders which share several genetic and behavioral features. The present study identified common neural mechanisms contributing to ASD and schizophrenia using resting-state functional MRI data. The results may help to understand the pathology of these two neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1002/aur.1834 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322

---

1 (1 - 4 / 4)