Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome / Bhismadev CHAKRABARTI in Autism Research, 2-3 (June 2009)  

Public ISBD [article]  inAutism Research > 2-3 (June 2009) . - p.157-177 Titre : Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Bhismadev CHAKRABARTI, Auteur ; Simon BARON-COHEN, Auteur ; Sally WHEELWRIGHT, Auteur ; Carrie ALLISON, Auteur ; F. DUDBRIDGE, Auteur ; G. HILL-CAWTHORNE, Auteur ; Sharmila BANERJEE-BASU, Auteur ; Lindsey KENT, Auteur Année de publication : 2009 Article en page(s) : p.157-177 Langues : Anglais (eng) Mots-clés : genetics Asperger-syndrome autism empathy autistic-traits visual-search emotion-recognition SNP broader-autism-phenotype Index. décimale : PER Périodiques Résumé : Genetic studies of autism spectrum conditions (ASC) have mostly focused on the low functioning severe clinical subgroup, treating it as a rare disorder. However, ASC is now thought to be relatively common (1%), and representing one end of a quasi-normal distribution of autistic traits in the general population. Here we report a study of common genetic variation in candidate genes associated with autistic traits and Asperger syndrome (AS). We tested single nucleotide polymorphisms in 68 candidate genes in three functional groups (sex steroid synthesis/transport, neural connectivity, and social-emotional responsivity) in two experiments. These were (a) an association study of relevant behavioral traits (the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ)) in a population sample (n=349); and (b) a case-control association study on a sample of people with AS, a high-functioning subgroup of ASC (n=174). 27 genes showed a nominally significant association with autistic traits and/or ASC diagnosis. Of these, 19 genes showed nominally significant association with AQ/EQ. In the sex steroid group, this included ESR2 and CYP11B1. In the neural connectivity group, this included HOXA1, NTRK1, and NLGN4X. In the socio-responsivity behavior group, this included MAOB, AVPR1B, and WFS1. Fourteen genes showed nominally significant association with AS. In the sex steroid group, this included CYP17A1 and CYP19A1. In the socio-emotional behavior group, this included OXT. Six genes were nominally associated in both experiments, providing a partial replication. Eleven genes survived family wise error rate (FWER) correction using permutations across both experiments, which is greater than would be expected by chance. CYP11B1 and NTRK1 emerged as significantly associated genes in both experiments, after FWER correction (P<0.05). This is the first candidate-gene association study of AS and of autistic traits. The most promising candidate genes require independent replication and fine mapping. En ligne : http://dx.doi.org/10.1002/aur.80 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=937 [article] Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome [Texte imprimé et/ou numérique] / Bhismadev CHAKRABARTI, Auteur ; Simon BARON-COHEN, Auteur ; Sally WHEELWRIGHT, Auteur ; Carrie ALLISON, Auteur ; F. DUDBRIDGE, Auteur ; G. HILL-CAWTHORNE, Auteur ; Sharmila BANERJEE-BASU, Auteur ; Lindsey KENT, Auteur . - 2009 . - p.157-177. Langues : Anglais (eng) in Autism Research > 2-3 (June 2009) . - p.157-177 Mots-clés : genetics Asperger-syndrome autism empathy autistic-traits visual-search emotion-recognition SNP broader-autism-phenotype Index. décimale : PER Périodiques Résumé : Genetic studies of autism spectrum conditions (ASC) have mostly focused on the low functioning severe clinical subgroup, treating it as a rare disorder. However, ASC is now thought to be relatively common (1%), and representing one end of a quasi-normal distribution of autistic traits in the general population. Here we report a study of common genetic variation in candidate genes associated with autistic traits and Asperger syndrome (AS). We tested single nucleotide polymorphisms in 68 candidate genes in three functional groups (sex steroid synthesis/transport, neural connectivity, and social-emotional responsivity) in two experiments. These were (a) an association study of relevant behavioral traits (the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ)) in a population sample (n=349); and (b) a case-control association study on a sample of people with AS, a high-functioning subgroup of ASC (n=174). 27 genes showed a nominally significant association with autistic traits and/or ASC diagnosis. Of these, 19 genes showed nominally significant association with AQ/EQ. In the sex steroid group, this included ESR2 and CYP11B1. In the neural connectivity group, this included HOXA1, NTRK1, and NLGN4X. In the socio-responsivity behavior group, this included MAOB, AVPR1B, and WFS1. Fourteen genes showed nominally significant association with AS. In the sex steroid group, this included CYP17A1 and CYP19A1. In the socio-emotional behavior group, this included OXT. Six genes were nominally associated in both experiments, providing a partial replication. Eleven genes survived family wise error rate (FWER) correction using permutations across both experiments, which is greater than would be expected by chance. CYP11B1 and NTRK1 emerged as significantly associated genes in both experiments, after FWER correction (P<0.05). This is the first candidate-gene association study of AS and of autistic traits. The most promising candidate genes require independent replication and fine mapping. En ligne : http://dx.doi.org/10.1002/aur.80 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=937

Genetic Heterogeneity of Autism Spectrum Disorders / Catherine CROFT SWANWICK  

Public ISBD in Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment / Stephen I. DEUTSCH   Titre : Genetic Heterogeneity of Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Catherine CROFT SWANWICK, Auteur ; Eric C. LARSEN, Auteur ; Sharmila BANERJEE-BASU, Auteur Année de publication : 2011 Importance : p.65-82 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques En ligne : http://dx.doi.org/10.5772/19531 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=143 in Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment / Stephen I. DEUTSCH   Genetic Heterogeneity of Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Catherine CROFT SWANWICK, Auteur ; Eric C. LARSEN, Auteur ; Sharmila BANERJEE-BASU, Auteur . - 2011 . - p.65-82. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques En ligne : http://dx.doi.org/10.5772/19531 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=143

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A multifaceted approach for analyzing complex phenotypic data in rodent models of autism / I. DAS in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 11 p. Titre : A multifaceted approach for analyzing complex phenotypic data in rodent models of autism Type de document : Texte imprimé et/ou numérique Auteurs : I. DAS, Auteur ; M. A. ESTEVEZ, Auteur ; A. A. SARKAR, Auteur ; Sharmila BANERJEE-BASU, Auteur Article en page(s) : 11 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism (MIM 209850) is a multifactorial disorder with a broad clinical presentation. A number of high-confidence ASD risk genes are known; however, the contribution of non-genetic environmental factors towards ASD remains largely uncertain. Here, we present a bioinformatics resource of genetic and induced models of ASD developed using a shared annotation platform. Using this data, we depict the intricate trends in the research approaches to analyze rodent models of ASD. We identify the top 30 most frequently studied phenotypes extracted from rodent models of ASD based on 787 publications. As expected, many of these include animal model equivalents of the "core" phenotypes associated with ASD, such as impairments in social behavior and repetitive behavior, as well as several comorbid features of ASD including anxiety, seizures, and motor-control deficits. These phenotypes have also been studied in models based on a broad range of environmental inducers present in the database, of which gestational exposure to valproic acid (VPA) and maternal immune activation models comprising lipopolysaccharide (LPS) and poly I:C are the most studied. In our unique dataset of rescue models, we identify 24 pharmaceutical agents tested on established models derived from various ASD genes and CNV loci for their efficacy in mitigating symptoms relevant for ASD. As a case study, we analyze a large collection of Shank3 mouse models providing a high-resolution view of the in vivo role of this high-confidence ASD gene, which is the gateway towards understanding and dissecting the heterogeneous phenotypes seen in single-gene models of ASD. The trends described in this study could be useful for researchers to compare ASD models and to establish a complete profile for all relevant animal models in ASD research. En ligne : https://dx.doi.org/10.1186/s13229-019-0263-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 [article] A multifaceted approach for analyzing complex phenotypic data in rodent models of autism [Texte imprimé et/ou numérique] / I. DAS, Auteur ; M. A. ESTEVEZ, Auteur ; A. A. SARKAR, Auteur ; Sharmila BANERJEE-BASU, Auteur . - 11 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 11 p. Index. décimale : PER Périodiques Résumé : Autism (MIM 209850) is a multifactorial disorder with a broad clinical presentation. A number of high-confidence ASD risk genes are known; however, the contribution of non-genetic environmental factors towards ASD remains largely uncertain. Here, we present a bioinformatics resource of genetic and induced models of ASD developed using a shared annotation platform. Using this data, we depict the intricate trends in the research approaches to analyze rodent models of ASD. We identify the top 30 most frequently studied phenotypes extracted from rodent models of ASD based on 787 publications. As expected, many of these include animal model equivalents of the "core" phenotypes associated with ASD, such as impairments in social behavior and repetitive behavior, as well as several comorbid features of ASD including anxiety, seizures, and motor-control deficits. These phenotypes have also been studied in models based on a broad range of environmental inducers present in the database, of which gestational exposure to valproic acid (VPA) and maternal immune activation models comprising lipopolysaccharide (LPS) and poly I:C are the most studied. In our unique dataset of rescue models, we identify 24 pharmaceutical agents tested on established models derived from various ASD genes and CNV loci for their efficacy in mitigating symptoms relevant for ASD. As a case study, we analyze a large collection of Shank3 mouse models providing a high-resolution view of the in vivo role of this high-confidence ASD gene, which is the gateway towards understanding and dissecting the heterogeneous phenotypes seen in single-gene models of ASD. The trends described in this study could be useful for researchers to compare ASD models and to establish a complete profile for all relevant animal models in ASD research. En ligne : https://dx.doi.org/10.1186/s13229-019-0263-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389

Prenatal maternal infection and risk for autism in offspring: A meta-analysis / N. TIOLECO in Autism Research, 14-6 (June 2021)  

Public ISBD [article]  inAutism Research > 14-6 (June 2021) . - p.1296-1316 Titre : Prenatal maternal infection and risk for autism in offspring: A meta-analysis Type de document : Texte imprimé et/ou numérique Auteurs : N. TIOLECO, Auteur ; A. E. SILBERMAN, Auteur ; K. STRATIGOS, Auteur ; Sharmila BANERJEE-BASU, Auteur ; M. N. SPANN, Auteur ; A. H. WHITAKER, Auteur ; J. Blake TURNER, Auteur Article en page(s) : p.1296-1316 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Autistic Disorder/epidemiology  Causality  Female  Humans  Pregnancy  Pregnancy Complications  Prenatal Exposure Delayed Effects/epidemiology  Risk Factors  autism  infections  pregnancy  prenatal  risk factors Index. décimale : PER Périodiques Résumé : While prenatal maternal infection has received attention as a preventable and treatable risk factor for autism, findings have been inconsistent. This paper presents the results of a meta-analysis to determine whether the weight of the evidence supports such an association. Studies with a categorical diagnosis of autism as the outcome and an assessment of its association with prenatal maternal infection or fever (or the data necessary to compute this association) were included. A total of 36 studies met these criteria. Two independent reviewers extracted data on study design, methods of assessment, type of infectious agent, site of infection, trimester of exposure, definition of autism, and effect size. Analyses demonstrated a statistically significant association of maternal infection/fever with autism in offspring (OR = 1.32; 95% CI = 1.20-1.46). Adjustment for evident publication bias slightly weakened this association. There was little variation in effect sizes across agent or site of infection. Small differences across trimester of exposure were not statistically significant. There was some evidence that recall bias associated with status on the outcome variable leads to differential misclassification of exposure status. Nonetheless, the overall association is only modestly reduced when studies potentially contaminated by such bias are removed. Although causality has not been firmly established, these findings suggest maternal infection during pregnancy confers an increase in risk for autism in offspring. Given the prevalence of this risk factor, it is possible that the incidence of autism would be reduced by 12%-17% if maternal infections could be prevented or safely treated in a timely manner. LAY SUMMARY: This study is a meta-analysis of the association of maternal infection during pregnancy and subsequent autism in offspring. In combining the results from 36 studies of this association we find that a significant relationship is present. The association does not vary much across the types of infections or when they occur during pregnancy. We conclude that the incidence of autism could be substantially reduced if maternal infections could be prevented or safely treated in a timely manner. En ligne : http://dx.doi.org/10.1002/aur.2499 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Prenatal maternal infection and risk for autism in offspring: A meta-analysis [Texte imprimé et/ou numérique] / N. TIOLECO, Auteur ; A. E. SILBERMAN, Auteur ; K. STRATIGOS, Auteur ; Sharmila BANERJEE-BASU, Auteur ; M. N. SPANN, Auteur ; A. H. WHITAKER, Auteur ; J. Blake TURNER, Auteur . - p.1296-1316. Langues : Anglais (eng) in Autism Research > 14-6 (June 2021) . - p.1296-1316 Mots-clés : Autism Spectrum Disorder  Autistic Disorder/epidemiology  Causality  Female  Humans  Pregnancy  Pregnancy Complications  Prenatal Exposure Delayed Effects/epidemiology  Risk Factors  autism  infections  pregnancy  prenatal  risk factors Index. décimale : PER Périodiques Résumé : While prenatal maternal infection has received attention as a preventable and treatable risk factor for autism, findings have been inconsistent. This paper presents the results of a meta-analysis to determine whether the weight of the evidence supports such an association. Studies with a categorical diagnosis of autism as the outcome and an assessment of its association with prenatal maternal infection or fever (or the data necessary to compute this association) were included. A total of 36 studies met these criteria. Two independent reviewers extracted data on study design, methods of assessment, type of infectious agent, site of infection, trimester of exposure, definition of autism, and effect size. Analyses demonstrated a statistically significant association of maternal infection/fever with autism in offspring (OR = 1.32; 95% CI = 1.20-1.46). Adjustment for evident publication bias slightly weakened this association. There was little variation in effect sizes across agent or site of infection. Small differences across trimester of exposure were not statistically significant. There was some evidence that recall bias associated with status on the outcome variable leads to differential misclassification of exposure status. Nonetheless, the overall association is only modestly reduced when studies potentially contaminated by such bias are removed. Although causality has not been firmly established, these findings suggest maternal infection during pregnancy confers an increase in risk for autism in offspring. Given the prevalence of this risk factor, it is possible that the incidence of autism would be reduced by 12%-17% if maternal infections could be prevented or safely treated in a timely manner. LAY SUMMARY: This study is a meta-analysis of the association of maternal infection during pregnancy and subsequent autism in offspring. In combining the results from 36 studies of this association we find that a significant relationship is present. The association does not vary much across the types of infections or when they occur during pregnancy. We conclude that the incidence of autism could be substantially reduced if maternal infections could be prevented or safely treated in a timely manner. En ligne : http://dx.doi.org/10.1002/aur.2499 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) / Brett ABRAHAMS in Molecular Autism, (October 2013)  

Public ISBD [article]  inMolecular Autism > (October 2013) Titre : SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) Type de document : Texte imprimé et/ou numérique Auteurs : Brett ABRAHAMS, Auteur ; Dan ARKING, Auteur ; Daniel B. CAMPBELL, Auteur ; Heather MEFFORD, Auteur ; Eric MORROW, Auteur ; Lauren WEISS, Auteur ; Idan MENASHE, Auteur ; Tim WADKINS, Auteur ; Sharmila BANERJEE-BASU, Auteur ; Alan PACKER, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although encouraging, the volume and complexity of these data make it challenging for scientists, particularly non-geneticists, to comprehensively evaluate available evidence for individual genes. Described here is the Gene Scoring module within SFARI Gene 2.0 (https://gene.sfari.org/autdb/GS_Home.do), a platform developed to enable systematic community driven assessment of genetic evidence for individual genes with regard to ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-36 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) [Texte imprimé et/ou numérique] / Brett ABRAHAMS, Auteur ; Dan ARKING, Auteur ; Daniel B. CAMPBELL, Auteur ; Heather MEFFORD, Auteur ; Eric MORROW, Auteur ; Lauren WEISS, Auteur ; Idan MENASHE, Auteur ; Tim WADKINS, Auteur ; Sharmila BANERJEE-BASU, Auteur ; Alan PACKER, Auteur. Langues : Anglais (eng) in Molecular Autism > (October 2013) Index. décimale : PER Périodiques Résumé : New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although encouraging, the volume and complexity of these data make it challenging for scientists, particularly non-geneticists, to comprehensively evaluate available evidence for individual genes. Described here is the Gene Scoring module within SFARI Gene 2.0 (https://gene.sfari.org/autdb/GS_Home.do), a platform developed to enable systematic community driven assessment of genetic evidence for individual genes with regard to ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-36 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

STX1A and Asperger syndrome: a replication study / Jaroslava DURDIAKOVA in Molecular Autism, (February 2014)  

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A systematic variant annotation approach for ranking genes associated with autism spectrum disorders / E. LARSEN in Molecular Autism, 7 (2016)  

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