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Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder / Thorsten M. KRANZ in Autism Research, 9-10 (October 2016)
[article]
Titre : Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Thorsten M. KRANZ, Auteur ; Marnie KOPP, Auteur ; Regina WALTES, Auteur ; Michael SACHSE, Auteur ; Eftichia DUKETIS, Auteur ; Tomasz A. JARCZOK, Auteur ; Franziska DEGENHARDT, Auteur ; Katharina GÖRGEN, Auteur ; Jobst MEYER, Auteur ; Christine M. FREITAG, Auteur ; Andreas G. CHIOCCHETTI, Auteur Article en page(s) : p.1036-1045 Langues : Anglais (eng) Mots-clés : meta-analysis autism spectrum disorder oxytocin receptor genotyping social interaction endophenotype genetics oxytocin Index. décimale : PER Périodiques Résumé : Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR?=?1.48, CI95?=?1.06-2.08, P?=?0.022) for the minor A allele of variant rs237889G>A in sample 1 (N?=?135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N?=?542 families), this finding was confirmed (OR?=?1.12; CI95?=?1.01–1.24, random effects P?=?0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview – revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). En ligne : http://dx.doi.org/10.1002/aur.1597 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294
in Autism Research > 9-10 (October 2016) . - p.1036-1045[article] Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder [Texte imprimé et/ou numérique] / Thorsten M. KRANZ, Auteur ; Marnie KOPP, Auteur ; Regina WALTES, Auteur ; Michael SACHSE, Auteur ; Eftichia DUKETIS, Auteur ; Tomasz A. JARCZOK, Auteur ; Franziska DEGENHARDT, Auteur ; Katharina GÖRGEN, Auteur ; Jobst MEYER, Auteur ; Christine M. FREITAG, Auteur ; Andreas G. CHIOCCHETTI, Auteur . - p.1036-1045.
Langues : Anglais (eng)
in Autism Research > 9-10 (October 2016) . - p.1036-1045
Mots-clés : meta-analysis autism spectrum disorder oxytocin receptor genotyping social interaction endophenotype genetics oxytocin Index. décimale : PER Périodiques Résumé : Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR?=?1.48, CI95?=?1.06-2.08, P?=?0.022) for the minor A allele of variant rs237889G>A in sample 1 (N?=?135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N?=?542 families), this finding was confirmed (OR?=?1.12; CI95?=?1.01–1.24, random effects P?=?0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview – revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). En ligne : http://dx.doi.org/10.1002/aur.1597 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294 Meta-analysis of Big Five personality traits in autism spectrum disorder / J. LODI-SMITH in Autism, 23-3 (April 2019)
[article]
Titre : Meta-analysis of Big Five personality traits in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : J. LODI-SMITH, Auteur ; Jonathan D. RODGERS, Auteur ; S. A. CUNNINGHAM, Auteur ; C. LOPATA, Auteur ; M. L. THOMEER, Auteur Article en page(s) : p.556-565 Langues : Anglais (eng) Mots-clés : Big Five personality autism spectrum disorders meta-analysis Index. décimale : PER Périodiques Résumé : The present meta-analysis synthesizes the emerging literature on the relationship of Big Five personality traits to autism spectrum disorder. Studies were included if they (1) either (a) measured autism spectrum disorder characteristics using a metric that yielded a single score quantification of the magnitude of autism spectrum disorder characteristics and/or (b) studied individuals with an autism spectrum disorder diagnosis compared to individuals without an autism spectrum disorder diagnosis and (2) measured Big Five traits in the same sample or samples. Fourteen reviewed studies include both correlational analyses and group comparisons. Eighteen effect sizes per Big Five trait were used to calculate two overall effect sizes per trait. Meta-analytic effects were calculated using random effects models. Twelve effects (per trait) from nine studies reporting correlations yielded a negative association between each Big Five personality trait and autism spectrum disorder characteristics (Fisher's z ranged from -.21 (conscientiousness) to -.50 (extraversion)). Six group contrasts (per trait) from six studies comparing individuals diagnosed with autism spectrum disorder to neurotypical individuals were also substantial (Hedges' g ranged from -.88 (conscientiousness) to -1.42 (extraversion)). The potential impact of personality on important life outcomes and new directions for future research on personality in autism spectrum disorder are discussed in light of results. En ligne : http://dx.doi.org/10.1177/1362361318766571 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=392
in Autism > 23-3 (April 2019) . - p.556-565[article] Meta-analysis of Big Five personality traits in autism spectrum disorder [Texte imprimé et/ou numérique] / J. LODI-SMITH, Auteur ; Jonathan D. RODGERS, Auteur ; S. A. CUNNINGHAM, Auteur ; C. LOPATA, Auteur ; M. L. THOMEER, Auteur . - p.556-565.
Langues : Anglais (eng)
in Autism > 23-3 (April 2019) . - p.556-565
Mots-clés : Big Five personality autism spectrum disorders meta-analysis Index. décimale : PER Périodiques Résumé : The present meta-analysis synthesizes the emerging literature on the relationship of Big Five personality traits to autism spectrum disorder. Studies were included if they (1) either (a) measured autism spectrum disorder characteristics using a metric that yielded a single score quantification of the magnitude of autism spectrum disorder characteristics and/or (b) studied individuals with an autism spectrum disorder diagnosis compared to individuals without an autism spectrum disorder diagnosis and (2) measured Big Five traits in the same sample or samples. Fourteen reviewed studies include both correlational analyses and group comparisons. Eighteen effect sizes per Big Five trait were used to calculate two overall effect sizes per trait. Meta-analytic effects were calculated using random effects models. Twelve effects (per trait) from nine studies reporting correlations yielded a negative association between each Big Five personality trait and autism spectrum disorder characteristics (Fisher's z ranged from -.21 (conscientiousness) to -.50 (extraversion)). Six group contrasts (per trait) from six studies comparing individuals diagnosed with autism spectrum disorder to neurotypical individuals were also substantial (Hedges' g ranged from -.88 (conscientiousness) to -1.42 (extraversion)). The potential impact of personality on important life outcomes and new directions for future research on personality in autism spectrum disorder are discussed in light of results. En ligne : http://dx.doi.org/10.1177/1362361318766571 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=392 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 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia / THE AUTISM SPECTRUM DISORDERS WORKING GROUP OF THE PSYCHIATRIC GENOMICS CONSORTIUM in Molecular Autism, 8 (2017)
[article]
Titre : Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia Type de document : Texte imprimé et/ou numérique Auteurs : THE AUTISM SPECTRUM DISORDERS WORKING GROUP OF THE PSYCHIATRIC GENOMICS CONSORTIUM, Auteur Article en page(s) : 21p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Gene-set analysis Genetic correlation Genome-wide association study Heritability Meta-analysis Neurodevelopment Schizophrenia Index. décimale : PER Périodiques Résumé : BACKGROUND: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15). METHODS: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). RESULTS: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P = 9 x 10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. CONCLUSIONS: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4. En ligne : http://dx.doi.org/10.1186/s13229-017-0137-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331
in Molecular Autism > 8 (2017) . - 21p.[article] Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia [Texte imprimé et/ou numérique] / THE AUTISM SPECTRUM DISORDERS WORKING GROUP OF THE PSYCHIATRIC GENOMICS CONSORTIUM, Auteur . - 21p.
Langues : Anglais (eng)
in Molecular Autism > 8 (2017) . - 21p.
Mots-clés : Autism spectrum disorder Gene-set analysis Genetic correlation Genome-wide association study Heritability Meta-analysis Neurodevelopment Schizophrenia Index. décimale : PER Périodiques Résumé : BACKGROUND: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15). METHODS: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). RESULTS: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P = 9 x 10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. CONCLUSIONS: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4. En ligne : http://dx.doi.org/10.1186/s13229-017-0137-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331 Meta-analysis of naturalistic developmental behavioral interventions for young children with autism spectrum disorder / G. TIEDE in Autism, 23-8 (November 2019)
[article]
Titre : Meta-analysis of naturalistic developmental behavioral interventions for young children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : G. TIEDE, Auteur ; Katherine M. WALTON, Auteur Article en page(s) : p.2080-2095 Langues : Anglais (eng) Mots-clés : autism meta-analysis naturalistic developmental behavioral intervention Index. décimale : PER Périodiques Résumé : Naturalistic developmental behavioral intervention is an emerging class of interventions for young children with autism spectrum disorder. The present article is a meta-analysis of outcomes of group-design studies (n = 27) testing interventions using naturalistic developmental behavioral intervention strategies. Small, significant positive effects of naturalistic developmental behavioral intervention were found for expressive language (g = 0.32), reduction in symptoms of autism spectrum disorder (g = -0.38), and play skills (g = 0.23). Larger effects were found for social engagement (g = 0.65) and overall cognitive development (g = 0.48). A marginal effect was found for joint attention (g = 0.14) and receptive language (g = 0.28). For joint attention, improvement was moderated by hours of professional involvement. Evidence of publication and reporting bias was present for language outcomes. This meta-analysis grows the evidence base for naturalistic developmental behavioral interventions, particularly in the key areas of social engagement and cognition. En ligne : http://dx.doi.org/10.1177/1362361319836371 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=407
in Autism > 23-8 (November 2019) . - p.2080-2095[article] Meta-analysis of naturalistic developmental behavioral interventions for young children with autism spectrum disorder [Texte imprimé et/ou numérique] / G. TIEDE, Auteur ; Katherine M. WALTON, Auteur . - p.2080-2095.
Langues : Anglais (eng)
in Autism > 23-8 (November 2019) . - p.2080-2095
Mots-clés : autism meta-analysis naturalistic developmental behavioral intervention Index. décimale : PER Périodiques Résumé : Naturalistic developmental behavioral intervention is an emerging class of interventions for young children with autism spectrum disorder. The present article is a meta-analysis of outcomes of group-design studies (n = 27) testing interventions using naturalistic developmental behavioral intervention strategies. Small, significant positive effects of naturalistic developmental behavioral intervention were found for expressive language (g = 0.32), reduction in symptoms of autism spectrum disorder (g = -0.38), and play skills (g = 0.23). Larger effects were found for social engagement (g = 0.65) and overall cognitive development (g = 0.48). A marginal effect was found for joint attention (g = 0.14) and receptive language (g = 0.28). For joint attention, improvement was moderated by hours of professional involvement. Evidence of publication and reporting bias was present for language outcomes. This meta-analysis grows the evidence base for naturalistic developmental behavioral interventions, particularly in the key areas of social engagement and cognition. En ligne : http://dx.doi.org/10.1177/1362361319836371 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=407 Meta-analysis of neuropsychological measures of executive functioning in children and adolescents with high-functioning autism spectrum disorder / Chun Lun Eric LAI in Autism Research, 10-5 (May 2017)
PermalinkMeta-Analysis of Social Skills Interventions of Single-Case Research for Individuals with Autism Spectrum Disorders: Results from Three-Level HLM / Shin-Yi WANG in Journal of Autism and Developmental Disorders, 43-7 (July 2013)
PermalinkMeta-analysis-tested formal models of potential mechanisms underlying females’ low autism-spectrum-disorder diagnosis rate compared to males’ / Meng-Ting CHEN in Research in Autism Spectrum Disorders, 98 (October 2022)
PermalinkSequential meta-analysis to determine the sufficiency of cumulative knowledge: The case of early intensive behavioral intervention for children with autism spectrum disorders / Sofie KUPPENS in Research in Autism Spectrum Disorders, 6-1 (January-March 2012)
PermalinkAge at autism spectrum disorder diagnosis: A systematic review and meta-analysis from 2012 to 2019 / Maarten VAN 'T HOF in Autism, 25-4 (May 2021)
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