A comprehensive meta-analysis of common genetic variants in autism spectrum conditions / Varun WARRIER in Molecular Autism, (August 2015)  

Public ISBD [article]  inMolecular Autism > (August 2015) . - p.1-11 Titre : A comprehensive meta-analysis of common genetic variants in autism spectrum conditions Type de document : Texte imprimé et/ou numérique Auteurs : Varun WARRIER, Auteur ; Vivienne CHEE, Auteur ; Paula SMITH, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : p.1-11 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum conditions (ASC) are a group of neurodevelopmental conditions characterized by difficulties in social interaction and communication alongside repetitive and stereotyped behaviours. ASC are heritable, and common genetic variants contribute substantial phenotypic variability. More than 600 genes have been implicated in ASC to date. However, a comprehensive investigation of candidate gene association studies in ASC is lacking. En ligne : http://dx.doi.org/10.1186/s13229-015-0041-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] A comprehensive meta-analysis of common genetic variants in autism spectrum conditions [Texte imprimé et/ou numérique] / Varun WARRIER, Auteur ; Vivienne CHEE, Auteur ; Paula SMITH, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Simon BARON-COHEN, Auteur . - p.1-11. Langues : Anglais (eng) in Molecular Autism > (August 2015) . - p.1-11 Index. décimale : PER Périodiques Résumé : Autism spectrum conditions (ASC) are a group of neurodevelopmental conditions characterized by difficulties in social interaction and communication alongside repetitive and stereotyped behaviours. ASC are heritable, and common genetic variants contribute substantial phenotypic variability. More than 600 genes have been implicated in ASC to date. However, a comprehensive investigation of candidate gene association studies in ASC is lacking. En ligne : http://dx.doi.org/10.1186/s13229-015-0041-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome / Agnese DI NAPOLI in Molecular Autism, (February 2015)  

Public ISBD [article]  inMolecular Autism > (February 2015) . - p.1-7 Titre : Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Agnese DI NAPOLI, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur Article en page(s) : p.1-7 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. En ligne : http://dx.doi.org/10.1186/s13229-015-0009-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome [Texte imprimé et/ou numérique] / Agnese DI NAPOLI, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur . - p.1-7. Langues : Anglais (eng) in Molecular Autism > (February 2015) . - p.1-7 Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. En ligne : http://dx.doi.org/10.1186/s13229-015-0009-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism / Varun WARRIER in Molecular Autism, (December 2013)  

Public ISBD [article]  inMolecular Autism > (December 2013) Titre : Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism Type de document : Texte imprimé et/ou numérique Auteurs : Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyric acid (GABA)-ergic system has been associated consistently with atypicalities in autism, in both genetic association and expression studies. A key component of the GABA-ergic system is encoded by the GABRB3 gene, which has been previously implicated both in ASC and in individual differences in empathy. In this study, 45 genotyped single nucleotide polymorphisms (SNPs) within GABRB3 were tested for association with Asperger syndrome (AS), and related quantitative traits measured through the following tests: the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ), the Systemizing Quotient-Revised (SQ-R), the Embedded Figures Test (EFT), the Reading the Mind in the Eyes Test (RMET), and the Mental Rotation Test (MRT). Two-loci, three-loci, four-loci haplotype analyses, and one seven-loci haplotype analysis were also performed in the AS case-control sample. Three SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with AS, and two SNPs (rs9806546, rs11636966) were significantly associated with EQ. Two SNP-SNP pairs, rs12438141-rs1035751 and rs12438141-rs7179514, showed significant association with variation in the EFT scores. One SNP-SNP pair, rs7174437-rs1863455, was significantly associated with variation in the MRT scores. Additionally, a few haplotypes, including a 19kb genomic region that formed a linkage disequilibrium (LD) block in our sample and contained several nominally significant SNPs, were found to be significantly associated with AS.CONCLUSION:The current study confirms the role of GABRB3 as an important candidate gene in both ASC and normative variation in related endophenotypes. En ligne : http://dx.doi.org/10.1186/2040-2392-4-48 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism [Texte imprimé et/ou numérique] / Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur. Langues : Anglais (eng) in Molecular Autism > (December 2013) Index. décimale : PER Périodiques Résumé : Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyric acid (GABA)-ergic system has been associated consistently with atypicalities in autism, in both genetic association and expression studies. A key component of the GABA-ergic system is encoded by the GABRB3 gene, which has been previously implicated both in ASC and in individual differences in empathy. In this study, 45 genotyped single nucleotide polymorphisms (SNPs) within GABRB3 were tested for association with Asperger syndrome (AS), and related quantitative traits measured through the following tests: the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ), the Systemizing Quotient-Revised (SQ-R), the Embedded Figures Test (EFT), the Reading the Mind in the Eyes Test (RMET), and the Mental Rotation Test (MRT). Two-loci, three-loci, four-loci haplotype analyses, and one seven-loci haplotype analysis were also performed in the AS case-control sample. Three SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with AS, and two SNPs (rs9806546, rs11636966) were significantly associated with EQ. Two SNP-SNP pairs, rs12438141-rs1035751 and rs12438141-rs7179514, showed significant association with variation in the EFT scores. One SNP-SNP pair, rs7174437-rs1863455, was significantly associated with variation in the MRT scores. Additionally, a few haplotypes, including a 19kb genomic region that formed a linkage disequilibrium (LD) block in our sample and contained several nominally significant SNPs, were found to be significantly associated with AS.CONCLUSION:The current study confirms the role of GABRB3 as an important candidate gene in both ASC and normative variation in related endophenotypes. En ligne : http://dx.doi.org/10.1186/2040-2392-4-48 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome / Agnese DI NAPOLI in Molecular Autism, (September 2014)  

Public ISBD [article]  inMolecular Autism > (September 2014) . - p.1-7 Titre : Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Agnese DI NAPOLI, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur Article en page(s) : p.1-7 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. ASC are highly heritable and have complex patterns of inheritance where multiple genes are involved, alongside environmental and epigenetic factors. Asperger Syndrome (AS) is a subgroup of these conditions, where there is no history of language or cognitive delay. Animal models suggest a role for oxytocin (OXT) and oxytocin receptor (OXTR) genes in social-emotional behaviors, and several studies indicate that the oxytocin/oxytocin receptor system is altered in individuals with ASC. Previous studies have reported associations between genetic variations in the OXTR gene and ASC. En ligne : http://dx.doi.org/10.1186/2040-2392-5-48 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome [Texte imprimé et/ou numérique] / Agnese DI NAPOLI, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur . - p.1-7. Langues : Anglais (eng) in Molecular Autism > (September 2014) . - p.1-7 Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. ASC are highly heritable and have complex patterns of inheritance where multiple genes are involved, alongside environmental and epigenetic factors. Asperger Syndrome (AS) is a subgroup of these conditions, where there is no history of language or cognitive delay. Animal models suggest a role for oxytocin (OXT) and oxytocin receptor (OXTR) genes in social-emotional behaviors, and several studies indicate that the oxytocin/oxytocin receptor system is altered in individuals with ASC. Previous studies have reported associations between genetic variations in the OXTR gene and ASC. En ligne : http://dx.doi.org/10.1186/2040-2392-5-48 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Increased prevalence of non-communicable physical health conditions among autistic adults / Elizabeth WEIR in Autism, 25-3 (April 2021)  

Public ISBD [article]  inAutism > 25-3 (April 2021) . - p.681-694 Titre : Increased prevalence of non-communicable physical health conditions among autistic adults Type de document : Texte imprimé et/ou numérique Auteurs : Elizabeth WEIR, Auteur ; Carrie ALLISON, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : p.681-694 Langues : Anglais (eng) Mots-clés : adults  autism spectrum disorders  health services  medical comorbidity Index. décimale : PER Périodiques Résumé : Previous research indicates autistic individuals die at a younger age than others and that this is possibly due in part to chronic physical health conditions. The present study used an anonymous, online survey to determine how common certain physical health conditions are among autistic adults, compared with non-autistic adults. We found autistic adults are more likely to develop heart conditions, lung conditions, and diabetes than non-autistic adults. Autistic females may be at higher risk of developing certain conditions (including respiratory conditions, asthma, and prediabetes) than autistic males. Finally, autistic individuals have increased health risks even when considering lifestyle factors (such as smoking, alcohol, and body mass index). This is still a relatively small study, and future research needs to confirm these findings and identify why these risks exist. En ligne : http://dx.doi.org/10.1177/1362361320953652 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444 [article] Increased prevalence of non-communicable physical health conditions among autistic adults [Texte imprimé et/ou numérique] / Elizabeth WEIR, Auteur ; Carrie ALLISON, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur . - p.681-694. Langues : Anglais (eng) in Autism > 25-3 (April 2021) . - p.681-694 Mots-clés : adults  autism spectrum disorders  health services  medical comorbidity Index. décimale : PER Périodiques Résumé : Previous research indicates autistic individuals die at a younger age than others and that this is possibly due in part to chronic physical health conditions. The present study used an anonymous, online survey to determine how common certain physical health conditions are among autistic adults, compared with non-autistic adults. We found autistic adults are more likely to develop heart conditions, lung conditions, and diabetes than non-autistic adults. Autistic females may be at higher risk of developing certain conditions (including respiratory conditions, asthma, and prediabetes) than autistic males. Finally, autistic individuals have increased health risks even when considering lifestyle factors (such as smoking, alcohol, and body mass index). This is still a relatively small study, and future research needs to confirm these findings and identify why these risks exist. En ligne : http://dx.doi.org/10.1177/1362361320953652 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444

Reexamining empathy in autism: Empathic disequilibrium as a novel predictor of autism diagnosis and autistic traits / Ido SHALEV in Autism Research, 15-10 (October 2022)  

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Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome / Jaroslava DURDIAKOVA in Molecular Autism, (March 2014)  

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

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