Copy number variation and neural pathway analysis of children with autism spectrum disorder from a large Han Chinese population-based cross-sectional study / You YANG in Research in Autism Spectrum Disorders, 51 (July 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 51 (July 2018) . - p.66-74 Titre : Copy number variation and neural pathway analysis of children with autism spectrum disorder from a large Han Chinese population-based cross-sectional study Type de document : texte imprimé Auteurs : You YANG, Auteur ; Zhijuan JIN, Auteur ; Jian WANG, Auteur ; Shijian LIU, Auteur ; Hong HUANG, Auteur ; Xingming JIN, Auteur Article en page(s) : p.66-74 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Copy number variations (CNVs)  Microarray diagnostic testing  Pathway analysis  Han Chinese Index. décimale : PER Périodiques Résumé : Certain genetic events can be attributed to copy number variations (CNVs). A population in Shanghai, China was screened for autism spectrum disorder (ASD), and their CNV characteristics and possible associations with neural pathways were analyzed. A multi-stage stratified cluster sampling method was used to evaluate 3- to 12-year-old children from the general population who were in kindergarten and primary school in Shanghai. DNA samples were obtained from 133 ASD cases from preparatory ASD screening. An Affymetrix Cytoscan 750k array was used for copy number variant detection. Among the 711 children who had positive results on a survey completed by both their parents and teachers, a total of 663 (93.2%) children underwent diagnostic evaluation. Of these, 203 children were confirmed to have ASD, including 163 (80.3%) children from special education schools, 29 (14.3%) children from general kindergartens, and 11 (5.4%) children from general primary schools. Final consent had been given for blood collection, and 15 CNVs that may contribute to ASD in 133 cases were identified. The mean ages at which the ASD children with and without pathogenic CNVs (pCNVs) began to speak were 45.6 months and 29.2 months, respectively (t = 2.452, P = 0.016), and the ages of walking alone were 33.9 months and 17.5 months, respectively (t = 5.376, P < 0.001). ASD patients with pCNVs showed more abnormal facial features and signs of ASD (long faces, large noses, irregular teeth, dental caries, excessive joint extension) than those without pCNVs. The differences in tooth irregularity and dental caries between children with and without pCNVs were statistically significant (P < 0.01). These CNVs included a total of 993 genes. Pathway analysis was performed, and five statistically significant pathways were identified in online databases. This was the first population-based, pilot pathway analysis of CNVs in children with ASD under the diagnostic and statistical manual of mental disorders (DSM)-5 diagnostic criteria in China. Results indicate that ASD may be related to gamma-aminobutyric acid (GABA),dopamine, glycine and synaptic proteins. These findings are consistent with those of previous studies and provide new evidence for the role of regulation of proteolysis and endopeptidase activity in ASD. En ligne : https://doi.org/10.1016/j.rasd.2018.04.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=362 [article] Copy number variation and neural pathway analysis of children with autism spectrum disorder from a large Han Chinese population-based cross-sectional study [texte imprimé] / You YANG, Auteur ; Zhijuan JIN, Auteur ; Jian WANG, Auteur ; Shijian LIU, Auteur ; Hong HUANG, Auteur ; Xingming JIN, Auteur . - p.66-74. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 51 (July 2018) . - p.66-74 Mots-clés : Autism spectrum disorder (ASD)  Copy number variations (CNVs)  Microarray diagnostic testing  Pathway analysis  Han Chinese Index. décimale : PER Périodiques Résumé : Certain genetic events can be attributed to copy number variations (CNVs). A population in Shanghai, China was screened for autism spectrum disorder (ASD), and their CNV characteristics and possible associations with neural pathways were analyzed. A multi-stage stratified cluster sampling method was used to evaluate 3- to 12-year-old children from the general population who were in kindergarten and primary school in Shanghai. DNA samples were obtained from 133 ASD cases from preparatory ASD screening. An Affymetrix Cytoscan 750k array was used for copy number variant detection. Among the 711 children who had positive results on a survey completed by both their parents and teachers, a total of 663 (93.2%) children underwent diagnostic evaluation. Of these, 203 children were confirmed to have ASD, including 163 (80.3%) children from special education schools, 29 (14.3%) children from general kindergartens, and 11 (5.4%) children from general primary schools. Final consent had been given for blood collection, and 15 CNVs that may contribute to ASD in 133 cases were identified. The mean ages at which the ASD children with and without pathogenic CNVs (pCNVs) began to speak were 45.6 months and 29.2 months, respectively (t = 2.452, P = 0.016), and the ages of walking alone were 33.9 months and 17.5 months, respectively (t = 5.376, P < 0.001). ASD patients with pCNVs showed more abnormal facial features and signs of ASD (long faces, large noses, irregular teeth, dental caries, excessive joint extension) than those without pCNVs. The differences in tooth irregularity and dental caries between children with and without pCNVs were statistically significant (P < 0.01). These CNVs included a total of 993 genes. Pathway analysis was performed, and five statistically significant pathways were identified in online databases. This was the first population-based, pilot pathway analysis of CNVs in children with ASD under the diagnostic and statistical manual of mental disorders (DSM)-5 diagnostic criteria in China. Results indicate that ASD may be related to gamma-aminobutyric acid (GABA),dopamine, glycine and synaptic proteins. These findings are consistent with those of previous studies and provide new evidence for the role of regulation of proteolysis and endopeptidase activity in ASD. En ligne : https://doi.org/10.1016/j.rasd.2018.04.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=362

Integrative analysis of transcriptome-wide association study and mRNA expression profiles identifies candidate genes associated with autism spectrum disorders / Hong HUANG in Autism Research, 12-1 (January 2019)  

Public ISBD [article]  inAutism Research > 12-1 (January 2019) . - p.33-38 Titre : Integrative analysis of transcriptome-wide association study and mRNA expression profiles identifies candidate genes associated with autism spectrum disorders Type de document : texte imprimé Auteurs : Hong HUANG, Auteur ; Shiqiang CHENG, Auteur ; Miao DING, Auteur ; Yan WEN, Auteur ; Mei MA, Auteur ; Liang ZHANG, Auteur ; Pengli LI, Auteur ; Bastian CHENG, Auteur ; Xingmei LIANG, Auteur ; Li LIU, Auteur ; Yanan DU, Auteur ; Yan ZHAO, Auteur ; Om Prakash KAFLE, Auteur ; Bei HAN, Auteur ; Feng ZHANG, Auteur Article en page(s) : p.33-38 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  gene set enrichment analysis  mRNA expression profiles  transcriptome-wide association study Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are a group of highly heritable psychiatric syndromes with high prevalence. The genetic mechanism of ASD remains elusive now. Here we conducted a transcriptome-wide association study (TWAS) of ASD. The GWAS summary data of ASD was driven from the Psychiatric Genomics Consortium (PGC) portal, totally involving 5,305 ASD cases and 5,305 controls. FUSION software was applied to the GWAS summary data for tissue-related TWAS of ASD considering brain and blood. The ASD associated genes identified by TWAS were further validated by mRNA expression profiling of ASD and the Simons Foundation for Autism Research (SFARI) Gene tool. DAVID 6.8 was used to perform gene ontology (GO) enrichment analysis of ASD associated genes identified by TWAS. TWAS identified 85 genes with TWAS P value <0.05 for ASD. Further comparing the 85 genes with the differentially expressed genes identified by mRNA expression profiling of ASD patients found 5 overlapped genes, including MUTYH (PTWAS = 0.0460, PmRNA = 0.0040), ARHGAP27 (PTWAS = 0.0100, PmRNA = 0.0016), GCA (PTWAS = 0.0480, PmRNA = 0.0063), CCDC14 (PTWAS = 0.0067, PmRNA = 0.0035), and MED15 (PTWAS = 0.0324, PmRNA = 0.0092). Gene Ontology (GO) enrichment analysis of the genes identified by TWAS detected 10 significant GO terms, such as mitochondrion (P = 0.0051), NAD or NADH binding (P = 0.0169), mitochondrial part (P = 0.0386) and 2-oxoglutarate metabolic process (P = 0.0399). In conclusion, this study identified multiple ASD associated genes and gene sets, providing novel clues for revealing the pathogenesis of ASD. Autism Research 2019, 12: 33-38. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Recent genetic studies of autism spectrum disorders (ASD) have found multiple ASD related genes. However, the results of these studies were hardly replicated with each other, providing limited clues for exploring the genetic mechanism of ASD. This study detected a group of candidate genes showing transcriptome-wide associations with ASD. These results may provide novel clues for revealing the pathogenesis of ASD. En ligne : http://dx.doi.org/10.1002/aur.2048 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376 [article] Integrative analysis of transcriptome-wide association study and mRNA expression profiles identifies candidate genes associated with autism spectrum disorders [texte imprimé] / Hong HUANG, Auteur ; Shiqiang CHENG, Auteur ; Miao DING, Auteur ; Yan WEN, Auteur ; Mei MA, Auteur ; Liang ZHANG, Auteur ; Pengli LI, Auteur ; Bastian CHENG, Auteur ; Xingmei LIANG, Auteur ; Li LIU, Auteur ; Yanan DU, Auteur ; Yan ZHAO, Auteur ; Om Prakash KAFLE, Auteur ; Bei HAN, Auteur ; Feng ZHANG, Auteur . - p.33-38. Langues : Anglais (eng) in Autism Research > 12-1 (January 2019) . - p.33-38 Mots-clés : autism spectrum disorders  gene set enrichment analysis  mRNA expression profiles  transcriptome-wide association study Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are a group of highly heritable psychiatric syndromes with high prevalence. The genetic mechanism of ASD remains elusive now. Here we conducted a transcriptome-wide association study (TWAS) of ASD. The GWAS summary data of ASD was driven from the Psychiatric Genomics Consortium (PGC) portal, totally involving 5,305 ASD cases and 5,305 controls. FUSION software was applied to the GWAS summary data for tissue-related TWAS of ASD considering brain and blood. The ASD associated genes identified by TWAS were further validated by mRNA expression profiling of ASD and the Simons Foundation for Autism Research (SFARI) Gene tool. DAVID 6.8 was used to perform gene ontology (GO) enrichment analysis of ASD associated genes identified by TWAS. TWAS identified 85 genes with TWAS P value <0.05 for ASD. Further comparing the 85 genes with the differentially expressed genes identified by mRNA expression profiling of ASD patients found 5 overlapped genes, including MUTYH (PTWAS = 0.0460, PmRNA = 0.0040), ARHGAP27 (PTWAS = 0.0100, PmRNA = 0.0016), GCA (PTWAS = 0.0480, PmRNA = 0.0063), CCDC14 (PTWAS = 0.0067, PmRNA = 0.0035), and MED15 (PTWAS = 0.0324, PmRNA = 0.0092). Gene Ontology (GO) enrichment analysis of the genes identified by TWAS detected 10 significant GO terms, such as mitochondrion (P = 0.0051), NAD or NADH binding (P = 0.0169), mitochondrial part (P = 0.0386) and 2-oxoglutarate metabolic process (P = 0.0399). In conclusion, this study identified multiple ASD associated genes and gene sets, providing novel clues for revealing the pathogenesis of ASD. Autism Research 2019, 12: 33-38. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Recent genetic studies of autism spectrum disorders (ASD) have found multiple ASD related genes. However, the results of these studies were hardly replicated with each other, providing limited clues for exploring the genetic mechanism of ASD. This study detected a group of candidate genes showing transcriptome-wide associations with ASD. These results may provide novel clues for revealing the pathogenesis of ASD. En ligne : http://dx.doi.org/10.1002/aur.2048 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376

Prevalence of DSM-5 Autism Spectrum Disorder Among School-Based Children Aged 3-12 Years in Shanghai, China / Zhijuan JIN in Journal of Autism and Developmental Disorders, 48-7 (July 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2434-2443 Titre : Prevalence of DSM-5 Autism Spectrum Disorder Among School-Based Children Aged 3-12 Years in Shanghai, China Type de document : texte imprimé Auteurs : Zhijuan JIN, Auteur ; Yongjie YANG, Auteur ; Song LIU, Auteur ; Hong HUANG, Auteur ; Xingming JIN, Auteur Article en page(s) : p.2434-2443 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Children  Dsm-5  Prevalence Index. décimale : PER Périodiques Résumé : We estimated the prevalence of ASD in a population-based sample comprising children aged 3-12 years (N = 74,252) in Shanghai. This included a high-risk group sampled from special education schools and a low-risk group randomly sampled from general schools. First, we asked parents and then teachers to complete the Social Communication Questionnaire for participating children. Children who screened positive based on both parental and teachers' reports were comprehensively assessed. ASD was identified based on DSM-5 criteria. We identified 711 children as being at-risk for ASD, of which 203 were identified as ASD cases. The prevalence of ASD was 8.3 per 10,000, which is likely an underestimate, given that 81.6% of the children diagnosed with ASD had IQs below 40. This is the first report on the prevalence of ASD according to DSM-5 in China. En ligne : http://dx.doi.org/10.1007/s10803-018-3507-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 [article] Prevalence of DSM-5 Autism Spectrum Disorder Among School-Based Children Aged 3-12 Years in Shanghai, China [texte imprimé] / Zhijuan JIN, Auteur ; Yongjie YANG, Auteur ; Song LIU, Auteur ; Hong HUANG, Auteur ; Xingming JIN, Auteur . - p.2434-2443. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2434-2443 Mots-clés : Autism spectrum disorder  Children  Dsm-5  Prevalence Index. décimale : PER Périodiques Résumé : We estimated the prevalence of ASD in a population-based sample comprising children aged 3-12 years (N = 74,252) in Shanghai. This included a high-risk group sampled from special education schools and a low-risk group randomly sampled from general schools. First, we asked parents and then teachers to complete the Social Communication Questionnaire for participating children. Children who screened positive based on both parental and teachers' reports were comprehensively assessed. ASD was identified based on DSM-5 criteria. We identified 711 children as being at-risk for ASD, of which 203 were identified as ASD cases. The prevalence of ASD was 8.3 per 10,000, which is likely an underestimate, given that 81.6% of the children diagnosed with ASD had IQs below 40. This is the first report on the prevalence of ASD according to DSM-5 in China. En ligne : http://dx.doi.org/10.1007/s10803-018-3507-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367

Risk factors for ASD / Yuanyuan LIN in Journal of Autism and Developmental Disorders, 53-8 (August 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.2954-2963 Titre : Risk factors for ASD Type de document : texte imprimé Auteurs : Yuanyuan LIN, Auteur ; Guanghai WANG, Auteur ; You YANG, Auteur ; Xingming JIN, Auteur ; Hong HUANG, Auteur ; Yiwen ZHANG, Auteur ; Zhijuan JIN, Auteur Article en page(s) : p.2954-2963 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder that brings heavy burdens to families and the society. This case-control study explored risk factors for ASD based on 74,252 children aged 3-12 years who were recruited from general education kindergartens, primary schools, and special education schools in Shanghai, China. One hundred ninety-two children were identified with ASD according to the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition. Male sex, the presence of anoxia or asphyxia at birth, artificial feeding, adverse maternal psychological status, complications during pregnancy and higher paternal education were associated with ASD even after controlling for age, residential district, family history of mental disorders, parental personality, and amount of daily TV viewing. En ligne : https://doi.org/10.1007/s10803-022-05603-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Risk factors for ASD [texte imprimé] / Yuanyuan LIN, Auteur ; Guanghai WANG, Auteur ; You YANG, Auteur ; Xingming JIN, Auteur ; Hong HUANG, Auteur ; Yiwen ZHANG, Auteur ; Zhijuan JIN, Auteur . - p.2954-2963. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.2954-2963 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder that brings heavy burdens to families and the society. This case-control study explored risk factors for ASD based on 74,252 children aged 3-12 years who were recruited from general education kindergartens, primary schools, and special education schools in Shanghai, China. One hundred ninety-two children were identified with ASD according to the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition. Male sex, the presence of anoxia or asphyxia at birth, artificial feeding, adverse maternal psychological status, complications during pregnancy and higher paternal education were associated with ASD even after controlling for age, residential district, family history of mental disorders, parental personality, and amount of daily TV viewing. En ligne : https://doi.org/10.1007/s10803-022-05603-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

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