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Meta-Analysis of Gene Expression in Autism Spectrum Disorder / Carolyn CH'NG in Autism Research, 8-5 (October 2015)
[article]
Titre : Meta-Analysis of Gene Expression in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Carolyn CH'NG, Auteur ; Willie KWOK, Auteur ; Sanja ROGIC, Auteur ; Paul PAVLIDIS, Auteur Article en page(s) : p.593-608 Langues : Anglais (eng) Mots-clés : gene expression meta-analysis molecular genetics microarray Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are clinically heterogeneous and biologically complex. In general it remains unclear, what biological factors lead to changes in the brains of autistic individuals. A considerable number of transcriptome analyses have been performed in attempts to address this question, but their findings lack a clear consensus. As a result, each of these individual studies has not led to any significant advance in understanding the autistic phenotype as a whole. Here, we report a meta-analysis of more than 1000 microarrays across twelve independent studies on expression changes in ASD compared to unaffected individuals, in both blood and brain tissues. We identified a number of known and novel genes that are consistently differentially expressed across three studies of the brain (71 samples in total). A subset of the highly ranked genes is suggestive of effects on mitochondrial function. In blood, consistent changes were more difficult to identify, despite individual studies tending to exhibit larger effects than the brain studies. Our results are the strongest evidence to date of a common transcriptome signature in the brains of individuals with ASD. Autism Res 2015, 8: 593–608. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1475 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270
in Autism Research > 8-5 (October 2015) . - p.593-608[article] Meta-Analysis of Gene Expression in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Carolyn CH'NG, Auteur ; Willie KWOK, Auteur ; Sanja ROGIC, Auteur ; Paul PAVLIDIS, Auteur . - p.593-608.
Langues : Anglais (eng)
in Autism Research > 8-5 (October 2015) . - p.593-608
Mots-clés : gene expression meta-analysis molecular genetics microarray Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are clinically heterogeneous and biologically complex. In general it remains unclear, what biological factors lead to changes in the brains of autistic individuals. A considerable number of transcriptome analyses have been performed in attempts to address this question, but their findings lack a clear consensus. As a result, each of these individual studies has not led to any significant advance in understanding the autistic phenotype as a whole. Here, we report a meta-analysis of more than 1000 microarrays across twelve independent studies on expression changes in ASD compared to unaffected individuals, in both blood and brain tissues. We identified a number of known and novel genes that are consistently differentially expressed across three studies of the brain (71 samples in total). A subset of the highly ranked genes is suggestive of effects on mitochondrial function. In blood, consistent changes were more difficult to identify, despite individual studies tending to exhibit larger effects than the brain studies. Our results are the strongest evidence to date of a common transcriptome signature in the brains of individuals with ASD. Autism Res 2015, 8: 593–608. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1475 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270 Sex-biased gene expression in the developing brain: implications for autism spectrum disorders / Mark ZIATS in Molecular Autism, (May 2013)
[article]
Titre : Sex-biased gene expression in the developing brain: implications for autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Mark ZIATS, Auteur ; Owen RENNERT, Auteur Année de publication : 2013 Article en page(s) : 3 p. Langues : Anglais (eng) Mots-clés : Autistic disorder Gene expression Sex differences Index. décimale : PER Périodiques Résumé : Autism spectrum disorders affect significantly more males than females. Understanding sex differences in normal human brain development may provide insight into the mechanism(s) underlying this disparity; however, studies of sex differences in brain development at the genomic level are lacking. Here, we report a re-analysis of sex-specific gene expression from a recent large transcriptomic study of normal human brain development, to determine whether sex-biased genes relate to specific mechanistic processes. We discovered that male-biased genes are enriched for the processes of extracellular matrix formation/glycoproteins, immune response, chromatin, and cell cytoskeleton. We highlight that these pathways have been repeatedly implicated in autism and demonstrate that autism candidate genes are also enriched for these pathways. We propose that the overlap of these male-specific brain transcriptional modules with the same pathways in autism spectrum disorders may partially explain the increased incidence of autism in males. En ligne : http://dx.doi.org/10.1186/2040-2392-4-10 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202
in Molecular Autism > (May 2013) . - 3 p.[article] Sex-biased gene expression in the developing brain: implications for autism spectrum disorders [Texte imprimé et/ou numérique] / Mark ZIATS, Auteur ; Owen RENNERT, Auteur . - 2013 . - 3 p.
Langues : Anglais (eng)
in Molecular Autism > (May 2013) . - 3 p.
Mots-clés : Autistic disorder Gene expression Sex differences Index. décimale : PER Périodiques Résumé : Autism spectrum disorders affect significantly more males than females. Understanding sex differences in normal human brain development may provide insight into the mechanism(s) underlying this disparity; however, studies of sex differences in brain development at the genomic level are lacking. Here, we report a re-analysis of sex-specific gene expression from a recent large transcriptomic study of normal human brain development, to determine whether sex-biased genes relate to specific mechanistic processes. We discovered that male-biased genes are enriched for the processes of extracellular matrix formation/glycoproteins, immune response, chromatin, and cell cytoskeleton. We highlight that these pathways have been repeatedly implicated in autism and demonstrate that autism candidate genes are also enriched for these pathways. We propose that the overlap of these male-specific brain transcriptional modules with the same pathways in autism spectrum disorders may partially explain the increased incidence of autism in males. En ligne : http://dx.doi.org/10.1186/2040-2392-4-10 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer / J. FORES-MARTOS in Molecular Autism, 10 (2019)
[article]
Titre : Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer Type de document : Texte imprimé et/ou numérique Auteurs : J. FORES-MARTOS, Auteur ; F. CATALA-LOPEZ, Auteur ; J. SANCHEZ-VALLE, Auteur ; K. IBANEZ, Auteur ; H. TEJERO, Auteur ; H. PALMA-GUDIEL, Auteur ; J. CLIMENT, Auteur ; V. PANCALDI, Auteur ; L. FANANAS, Auteur ; C. ARANGO, Auteur ; Mara PARELLADA, Auteur ; A. BAUDOT, Auteur ; D. VOGT, Auteur ; J. L. RUBENSTEIN, Auteur ; A. VALENCIA, Auteur ; R. TABARES-SEISDEDOS, Auteur Article en page(s) : 17 p. Langues : Anglais (eng) Mots-clés : asd Autism Cancer Comorbidity Gene expression Meta-analysis Multimorbidity Transcriptome Index. décimale : PER Périodiques Résumé : Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods: Here, for the first time, we compared the gene expression profiles of ASD frontal cortex tissues and 22 cancer types obtained by differential expression meta-analysis and report gene, pathway, and drug set-based overlaps between them. Results: Four cancer types (brain, thyroid, kidney, and pancreatic cancers) presented a significant overlap in gene expression deregulations in the same direction as ASD whereas two cancer types (lung and prostate cancers) showed differential expression profiles significantly deregulated in the opposite direction from ASD. Functional enrichment and LINCS L1000 based drug set enrichment analyses revealed the implication of several biological processes and pathways that were affected jointly in both diseases, including impairments of the immune system, and impairments in oxidative phosphorylation and ATP synthesis among others. Our data also suggest that brain and kidney cancer have patterns of transcriptomic dysregulation in the PI3K/AKT/MTOR axis that are similar to those found in ASD. Conclusions: Comparisons of ASD and cancer differential gene expression meta-analysis results suggest that brain, kidney, thyroid, and pancreatic cancers are candidates for direct comorbid associations with ASD. On the other hand, lung and prostate cancers are candidates for inverse comorbid associations with ASD. Joint perturbations in a set of specific biological processes underlie these associations which include several pathways previously implicated in both cancer and ASD encompassing immune system alterations, impairments of energy metabolism, cell cycle, and signaling through PI3K and G protein-coupled receptors among others. These findings could help to explain epidemiological observations pointing towards direct and inverse comorbid associations between ASD and specific cancer types and depict a complex scenario regarding the molecular patterns of association between ASD and cancer. En ligne : http://dx.doi.org/10.1186/s13229-019-0262-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=398
in Molecular Autism > 10 (2019) . - 17 p.[article] Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer [Texte imprimé et/ou numérique] / J. FORES-MARTOS, Auteur ; F. CATALA-LOPEZ, Auteur ; J. SANCHEZ-VALLE, Auteur ; K. IBANEZ, Auteur ; H. TEJERO, Auteur ; H. PALMA-GUDIEL, Auteur ; J. CLIMENT, Auteur ; V. PANCALDI, Auteur ; L. FANANAS, Auteur ; C. ARANGO, Auteur ; Mara PARELLADA, Auteur ; A. BAUDOT, Auteur ; D. VOGT, Auteur ; J. L. RUBENSTEIN, Auteur ; A. VALENCIA, Auteur ; R. TABARES-SEISDEDOS, Auteur . - 17 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 17 p.
Mots-clés : asd Autism Cancer Comorbidity Gene expression Meta-analysis Multimorbidity Transcriptome Index. décimale : PER Périodiques Résumé : Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods: Here, for the first time, we compared the gene expression profiles of ASD frontal cortex tissues and 22 cancer types obtained by differential expression meta-analysis and report gene, pathway, and drug set-based overlaps between them. Results: Four cancer types (brain, thyroid, kidney, and pancreatic cancers) presented a significant overlap in gene expression deregulations in the same direction as ASD whereas two cancer types (lung and prostate cancers) showed differential expression profiles significantly deregulated in the opposite direction from ASD. Functional enrichment and LINCS L1000 based drug set enrichment analyses revealed the implication of several biological processes and pathways that were affected jointly in both diseases, including impairments of the immune system, and impairments in oxidative phosphorylation and ATP synthesis among others. Our data also suggest that brain and kidney cancer have patterns of transcriptomic dysregulation in the PI3K/AKT/MTOR axis that are similar to those found in ASD. Conclusions: Comparisons of ASD and cancer differential gene expression meta-analysis results suggest that brain, kidney, thyroid, and pancreatic cancers are candidates for direct comorbid associations with ASD. On the other hand, lung and prostate cancers are candidates for inverse comorbid associations with ASD. Joint perturbations in a set of specific biological processes underlie these associations which include several pathways previously implicated in both cancer and ASD encompassing immune system alterations, impairments of energy metabolism, cell cycle, and signaling through PI3K and G protein-coupled receptors among others. These findings could help to explain epidemiological observations pointing towards direct and inverse comorbid associations between ASD and specific cancer types and depict a complex scenario regarding the molecular patterns of association between ASD and cancer. En ligne : http://dx.doi.org/10.1186/s13229-019-0262-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=398 Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder / Ryan M. SMITH in Autism Research, 7-4 (August 2014)
[article]
Titre : Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ryan M. SMITH, Auteur ; Wesley BANKS, Auteur ; Emily HANSEN, Auteur ; Wolfgang SADEE, Auteur ; Gail E. HERMAN, Auteur Année de publication : 2014 Article en page(s) : p.459-467 Langues : Anglais (eng) Mots-clés : autism serotonin gene expression HTR2A rs6311 monoamine Index. décimale : PER Périodiques Résumé : The serotonin 2A receptor gene (HTR2A) harbors two functional single nucleotide polymorphisms (SNPs) that are frequent in populations of African and European descent; rs6311, which affects mRNA expression, and rs6314, which changes the amino acid sequence of the encoded protein and affects the signaling properties of the receptor. Multiple clinical associations support a role for these SNPs in cognitive and neuropsychiatric phenotypes, although studies in autism spectrum disorder (ASD) remain equivocal. Here, we tested transmission disequilibrium of rs6311 and rs6314 in a cohort of 158 ASD trios (simplex and multiplex), observing significant under-transmission of the minor “A” allele of rs6311 to offspring with ASD (permuted P?=?0.0004). Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individuals, rs6311/A decreases expression of HTR2A mRNA with an extended 5? untranslated region (UTR) in the frontopolar cortex in brain samples from 54 ASD patients and controls. Interpreting the clinical results in the context of our mRNA expression analysis, we speculate that any risk associated with rs6311 is conferred by greater expression of the long 5?UTR mRNA isoform. The current study corroborates earlier associations between rs6311 and ASD in a family study, supporting the hypothesis that rs6311 plays a modulatory role in ASD risk. En ligne : http://dx.doi.org/10.1002/aur.1383 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238
in Autism Research > 7-4 (August 2014) . - p.459-467[article] Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Ryan M. SMITH, Auteur ; Wesley BANKS, Auteur ; Emily HANSEN, Auteur ; Wolfgang SADEE, Auteur ; Gail E. HERMAN, Auteur . - 2014 . - p.459-467.
Langues : Anglais (eng)
in Autism Research > 7-4 (August 2014) . - p.459-467
Mots-clés : autism serotonin gene expression HTR2A rs6311 monoamine Index. décimale : PER Périodiques Résumé : The serotonin 2A receptor gene (HTR2A) harbors two functional single nucleotide polymorphisms (SNPs) that are frequent in populations of African and European descent; rs6311, which affects mRNA expression, and rs6314, which changes the amino acid sequence of the encoded protein and affects the signaling properties of the receptor. Multiple clinical associations support a role for these SNPs in cognitive and neuropsychiatric phenotypes, although studies in autism spectrum disorder (ASD) remain equivocal. Here, we tested transmission disequilibrium of rs6311 and rs6314 in a cohort of 158 ASD trios (simplex and multiplex), observing significant under-transmission of the minor “A” allele of rs6311 to offspring with ASD (permuted P?=?0.0004). Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individuals, rs6311/A decreases expression of HTR2A mRNA with an extended 5? untranslated region (UTR) in the frontopolar cortex in brain samples from 54 ASD patients and controls. Interpreting the clinical results in the context of our mRNA expression analysis, we speculate that any risk associated with rs6311 is conferred by greater expression of the long 5?UTR mRNA isoform. The current study corroborates earlier associations between rs6311 and ASD in a family study, supporting the hypothesis that rs6311 plays a modulatory role in ASD risk. En ligne : http://dx.doi.org/10.1002/aur.1383 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238 FOXP2 down expression is associated with executive dysfunctions and electrophysiological abnormalities of brain in Autism spectrum disorder; a neuroimaging genetic study / Arvin HAGHIGHATFARD in Autism & Developmental Language Impairments, 7 (January-December 2022)
[article]
Titre : FOXP2 down expression is associated with executive dysfunctions and electrophysiological abnormalities of brain in Autism spectrum disorder; a neuroimaging genetic study Type de document : Texte imprimé et/ou numérique Auteurs : Arvin HAGHIGHATFARD, Auteur ; Elham YAGHOUBI ASL, Auteur ; Rosita Azar BAHADORI, Auteur ; Rojina ALIABADIAN, Auteur ; Mahdi FARHADI, Auteur ; Fatemeh MOHAMMADPOUR, Auteur ; Zeinab TABRIZI, Auteur Langues : Anglais (eng) Mots-clés : ASD executive function electroencephalography FOXP2 sequencing gene expression Index. décimale : PER Périodiques Résumé : Background and aims Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language impairment, and challenges with social interaction, communication, and repetitive behaviors. Although genetics are a primary cause of ASD, the exact genes and molecular mechanisms involved in its pathogenesis are not completely clear. The FOXP2 gene encodes a transcription factor that is known for its major role in language development and severe speech problems. The present study aimed to evaluate the role of FOXP2 in ASD etiology, executive functions, and brain activities. Methods In the present study, we recruited 450 children with ASD and 490 neurotypical control children. Three domains of executive functions (working memory, response inhibition, and vigilance) were assessed. In addition, five-minute eyes closed electroencephalography was obtained from some of the children with ASD and neurotypical children. DNA sequence and expression level of FOXP2 in blood samples of children with ASD and the control group were evaluated by using sequencing and Real-time PCR, respectively. Results The results showed no mutations but a significant down expression of FOXP2 genes in children with ASD vs. neurotypical children. Several cognitive and executive function deficiencies were detected in children with ASD. Low alpha and gamma bands in the frontal lobe and high theta bands in the occipital lobe were revealed in children with ASD. We also found several correlations between FOXP2 expression levels and clinical assessments. Conclusions Our finding revealed the down expression of FOXP2, which could be considered as a biomarker for ASD as well as cognitive and executive dysfunction. Based on brain mapping data, FOXP2 may be related to the theta wave abnormality of children with ASD. FOXP2 may be considered a target of novel treatment to improve memory and executive functions. Implications Our findings highlight the role of FOXP2 mRNA level in ASD etiology, executive functions, and brain wave frequencies. En ligne : http://dx.doi.org/10.1177/23969415221126391 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491
in Autism & Developmental Language Impairments > 7 (January-December 2022)[article] FOXP2 down expression is associated with executive dysfunctions and electrophysiological abnormalities of brain in Autism spectrum disorder; a neuroimaging genetic study [Texte imprimé et/ou numérique] / Arvin HAGHIGHATFARD, Auteur ; Elham YAGHOUBI ASL, Auteur ; Rosita Azar BAHADORI, Auteur ; Rojina ALIABADIAN, Auteur ; Mahdi FARHADI, Auteur ; Fatemeh MOHAMMADPOUR, Auteur ; Zeinab TABRIZI, Auteur.
Langues : Anglais (eng)
in Autism & Developmental Language Impairments > 7 (January-December 2022)
Mots-clés : ASD executive function electroencephalography FOXP2 sequencing gene expression Index. décimale : PER Périodiques Résumé : Background and aims Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language impairment, and challenges with social interaction, communication, and repetitive behaviors. Although genetics are a primary cause of ASD, the exact genes and molecular mechanisms involved in its pathogenesis are not completely clear. The FOXP2 gene encodes a transcription factor that is known for its major role in language development and severe speech problems. The present study aimed to evaluate the role of FOXP2 in ASD etiology, executive functions, and brain activities. Methods In the present study, we recruited 450 children with ASD and 490 neurotypical control children. Three domains of executive functions (working memory, response inhibition, and vigilance) were assessed. In addition, five-minute eyes closed electroencephalography was obtained from some of the children with ASD and neurotypical children. DNA sequence and expression level of FOXP2 in blood samples of children with ASD and the control group were evaluated by using sequencing and Real-time PCR, respectively. Results The results showed no mutations but a significant down expression of FOXP2 genes in children with ASD vs. neurotypical children. Several cognitive and executive function deficiencies were detected in children with ASD. Low alpha and gamma bands in the frontal lobe and high theta bands in the occipital lobe were revealed in children with ASD. We also found several correlations between FOXP2 expression levels and clinical assessments. Conclusions Our finding revealed the down expression of FOXP2, which could be considered as a biomarker for ASD as well as cognitive and executive dysfunction. Based on brain mapping data, FOXP2 may be related to the theta wave abnormality of children with ASD. FOXP2 may be considered a target of novel treatment to improve memory and executive functions. Implications Our findings highlight the role of FOXP2 mRNA level in ASD etiology, executive functions, and brain wave frequencies. En ligne : http://dx.doi.org/10.1177/23969415221126391 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder / C. L. YIN in Molecular Autism, 7 (2016)
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PermalinkThe Expression of Caspases is Enhanced in Peripheral Blood Mononuclear Cells of Autism Spectrum Disorder Patients / Dario SINISCALCO in Journal of Autism and Developmental Disorders, 42-7 (July 2012)
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