Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? / Zachary WARREN in Autism Research, 5-1 (February 2012)  

Public ISBD [article]  inAutism Research > 5-1 (February 2012) . - p.31-38 Titre : Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? Type de document : Texte imprimé et/ou numérique Auteurs : Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2012 Article en page(s) : p.31-38 Langues : Anglais (eng) Mots-clés : Autism  ASD  genetic studies  rapid phenotyping Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. En ligne : http://dx.doi.org/10.1002/aur.230 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153 [article] Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? [Texte imprimé et/ou numérique] / Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.31-38. Langues : Anglais (eng) in Autism Research > 5-1 (February 2012) . - p.31-38 Mots-clés : Autism  ASD  genetic studies  rapid phenotyping Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. En ligne : http://dx.doi.org/10.1002/aur.230 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153

Common genetic variants, acting additively, are a major source of risk for autism / Lambertus KLEI in Molecular Autism, (October 2012)  

Public ISBD [article]  inMolecular Autism > (October 2012) . - 13 p. Titre : Common genetic variants, acting additively, are a major source of risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. J. WILLSEY, Auteur ; Daniel MORENO DE LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Christa L. MARTIN, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; Nadine M. MELHEM, Auteur ; Pauline CHASTE, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Edwin H. Jr COOK, Auteur ; Kathryn ROEDER, Auteur ; Bernie DEVLIN, Auteur Année de publication : 2012 Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : Narrow-sense heritability  Multiplex  Simplex  Quantitative genetics Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability. En ligne : http://dx.doi.org/10.1186/2040-2392-3-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Common genetic variants, acting additively, are a major source of risk for autism [Texte imprimé et/ou numérique] / Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. J. WILLSEY, Auteur ; Daniel MORENO DE LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Christa L. MARTIN, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; Nadine M. MELHEM, Auteur ; Pauline CHASTE, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Edwin H. Jr COOK, Auteur ; Kathryn ROEDER, Auteur ; Bernie DEVLIN, Auteur . - 2012 . - 13 p. Langues : Anglais (eng) in Molecular Autism > (October 2012) . - 13 p. Mots-clés : Narrow-sense heritability  Multiplex  Simplex  Quantitative genetics Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability. En ligne : http://dx.doi.org/10.1186/2040-2392-3-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Erratum: Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”? / Zachary WARREN in Autism Research, 5-2 (April 2012)  

Public ISBD [article]  inAutism Research > 5-2 (April 2012) . - p.151 Titre : Erratum: Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”? Type de document : Texte imprimé et/ou numérique Auteurs : Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2012 Article en page(s) : p.151 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1228 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] Erratum: Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”? [Texte imprimé et/ou numérique] / Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.151. Langues : Anglais (eng) in Autism Research > 5-2 (April 2012) . - p.151 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1228 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium / Roseann SCHAAF ; Karla K. AUSDERAU ; Grace T. BARANEK ; D Jonah BARRETT ; Carissa J. CASCIO ; Rachel L. DUMONT ; Ekomobong E. Eyoh ; Michelle D. FAILLA ; Jacob I. FELDMAN ; Jennifer H. FOSS-FEIG ; Heather L. GREEN ; Shulamite A. GREEN ; Jason L. HE ; Elizabeth A. KAPLAN-KAHN ; Bahar KEÇELI-KAYS?L? ; Keren MACLENNAN ; Zoe MAILLOUX ; Elysa J. MARCO ; Lisa E. MASH ; Elizabeth P. MCKERNAN ; Sophie MOLHOLM ; Stewart H. MOSTOFSKY ; Nicolaas A. J. PUTS ; Caroline E. ROBERTSON ; Natalie RUSSO ; Nicole SHEA ; John SIDERIS ; James S. SUTCLIFFE ; Teresa TAVASSOLI ; Mark T. WALLACE ; Ericka L. WODKA ; Tiffany G. WOYNAROSKI in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 31 p. Titre : Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium Type de document : Texte imprimé et/ou numérique Auteurs : Roseann SCHAAF, Auteur ; Karla K. AUSDERAU, Auteur ; Grace T. BARANEK, Auteur ; D Jonah BARRETT, Auteur ; Carissa J. CASCIO, Auteur ; Rachel L. DUMONT, Auteur ; Ekomobong E. Eyoh, Auteur ; Michelle D. FAILLA, Auteur ; Jacob I. FELDMAN, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Heather L. GREEN, Auteur ; Shulamite A. GREEN, Auteur ; Jason L. HE, Auteur ; Elizabeth A. KAPLAN-KAHN, Auteur ; Bahar KEÇELI-KAYS?L?, Auteur ; Keren MACLENNAN, Auteur ; Zoe MAILLOUX, Auteur ; Elysa J. MARCO, Auteur ; Lisa E. MASH, Auteur ; Elizabeth P. MCKERNAN, Auteur ; Sophie MOLHOLM, Auteur ; Stewart H. MOSTOFSKY, Auteur ; Nicolaas A. J. PUTS, Auteur ; Caroline E. ROBERTSON, Auteur ; Natalie RUSSO, Auteur ; Nicole SHEA, Auteur ; John SIDERIS, Auteur ; James S. SUTCLIFFE, Auteur ; Teresa TAVASSOLI, Auteur ; Mark T. WALLACE, Auteur ; Ericka L. WODKA, Auteur ; Tiffany G. WOYNAROSKI, Auteur Article en page(s) : 31 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these "supra-modal" traits in the autistic population. METHODS: Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to both evaluate the strength of a "general response pattern" factor for each supra-modal construct and determine the added value of "modality-specific response pattern" scores (e.g., Visual HYPER). Bayesian random-effects integrative data analysis models were used to examine the clinical and demographic correlates of all interpretable HYPER, HYPO, and SEEK (sub)constructs. RESULTS: All modality-specific HYPER subconstructs could be reliably and validly measured, whereas certain modality-specific HYPO and SEEK subconstructs were psychometrically inadequate when measured using existing items. Bifactor analyses supported the validity of a supra-modal HYPER construct (?(H)=.800) but not a supra-modal HYPO construct (?(H)=.653), and supra-modal SEEK models suggested a more limited version of the construct that excluded some sensory modalities (?(H)=.800; 4/7 modalities). Modality-specific subscales demonstrated significant added value for all response patterns. Meta-analytic correlations varied by construct, although sensory features tended to correlate most with other domains of core autism features and co-occurring psychiatric symptoms (with general HYPER and speech HYPO demonstrating the largest numbers of practically significant correlations). LIMITATIONS: Conclusions may not be generalizable beyond the specific pool of items used in the current study, which was limited to caregiver report of observable behaviors and excluded multisensory items that reflect many "real-world" sensory experiences. CONCLUSION: Of the three sensory response patterns, only HYPER demonstrated sufficient evidence for valid interpretation at the supra-modal level, whereas supra-modal HYPO/SEEK constructs demonstrated substantial psychometric limitations. For clinicians and researchers seeking to characterize sensory reactivity in autism, modality-specific response pattern scores may represent viable alternatives that overcome many of these limitations. En ligne : http://dx.doi.org/10.1186/s13229-023-00563-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium [Texte imprimé et/ou numérique] / Roseann SCHAAF, Auteur ; Karla K. AUSDERAU, Auteur ; Grace T. BARANEK, Auteur ; D Jonah BARRETT, Auteur ; Carissa J. CASCIO, Auteur ; Rachel L. DUMONT, Auteur ; Ekomobong E. Eyoh, Auteur ; Michelle D. FAILLA, Auteur ; Jacob I. FELDMAN, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Heather L. GREEN, Auteur ; Shulamite A. GREEN, Auteur ; Jason L. HE, Auteur ; Elizabeth A. KAPLAN-KAHN, Auteur ; Bahar KEÇELI-KAYS?L?, Auteur ; Keren MACLENNAN, Auteur ; Zoe MAILLOUX, Auteur ; Elysa J. MARCO, Auteur ; Lisa E. MASH, Auteur ; Elizabeth P. MCKERNAN, Auteur ; Sophie MOLHOLM, Auteur ; Stewart H. MOSTOFSKY, Auteur ; Nicolaas A. J. PUTS, Auteur ; Caroline E. ROBERTSON, Auteur ; Natalie RUSSO, Auteur ; Nicole SHEA, Auteur ; John SIDERIS, Auteur ; James S. SUTCLIFFE, Auteur ; Teresa TAVASSOLI, Auteur ; Mark T. WALLACE, Auteur ; Ericka L. WODKA, Auteur ; Tiffany G. WOYNAROSKI, Auteur . - 31 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 31 p. Index. décimale : PER Périodiques Résumé : BACKGROUND: Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these "supra-modal" traits in the autistic population. METHODS: Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to both evaluate the strength of a "general response pattern" factor for each supra-modal construct and determine the added value of "modality-specific response pattern" scores (e.g., Visual HYPER). Bayesian random-effects integrative data analysis models were used to examine the clinical and demographic correlates of all interpretable HYPER, HYPO, and SEEK (sub)constructs. RESULTS: All modality-specific HYPER subconstructs could be reliably and validly measured, whereas certain modality-specific HYPO and SEEK subconstructs were psychometrically inadequate when measured using existing items. Bifactor analyses supported the validity of a supra-modal HYPER construct (?(H)=.800) but not a supra-modal HYPO construct (?(H)=.653), and supra-modal SEEK models suggested a more limited version of the construct that excluded some sensory modalities (?(H)=.800; 4/7 modalities). Modality-specific subscales demonstrated significant added value for all response patterns. Meta-analytic correlations varied by construct, although sensory features tended to correlate most with other domains of core autism features and co-occurring psychiatric symptoms (with general HYPER and speech HYPO demonstrating the largest numbers of practically significant correlations). LIMITATIONS: Conclusions may not be generalizable beyond the specific pool of items used in the current study, which was limited to caregiver report of observable behaviors and excluded multisensory items that reflect many "real-world" sensory experiences. CONCLUSION: Of the three sensory response patterns, only HYPER demonstrated sufficient evidence for valid interpretation at the supra-modal level, whereas supra-modal HYPO/SEEK constructs demonstrated substantial psychometric limitations. For clinicians and researchers seeking to characterize sensory reactivity in autism, modality-specific response pattern scores may represent viable alternatives that overcome many of these limitations. En ligne : http://dx.doi.org/10.1186/s13229-023-00563-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder / Daniel B. CAMPBELL in Autism Research, 1-3 (June 2008)  

Public ISBD [article]  inAutism Research > 1-3 (June 2008) . - p.159-168 Titre : Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Daniel B. CAMPBELL, Auteur ; Antonio M. PERSICO, Auteur ; James S. SUTCLIFFE, Auteur ; Chun LI, Auteur ; Pat LEVITT, Auteur Année de publication : 2008 Article en page(s) : p.159-168 Langues : Anglais (eng) Mots-clés : genetic association plasminogen PLAUR uPAR SERPINE1 brain cerebral-cortex Index. décimale : PER Périodiques Résumé : A functional promoter variant of the gene encoding the MET receptor tyrosine kinase alters SP1 and SUB1 transcription factor binding, and is associated with autism spectrum disorder (ASD). Recent analyses of postmortem cerebral cortex from ASD patients revealed altered expression of MET protein and three transcripts encoding proteins that regulate MET signaling, hepatocyte growth factor (HGF), urokinase plasminogen activator receptor (PLAUR) and plasminogen activator inhibitor-1 (SERPINE1). To address potential risk conferred by multiple genes in the MET signaling pathway, we screened all exons and 5 promoter regions for variants in the five genes encoding proteins that regulate MET expression and activity. Identified variants were genotyped in 664 families (2,712 individuals including 1,228 with ASD) and 312 unrelated controls. Replicating our initial findings, family-based association test (FBAT) analyses demonstrated that the MET promoter variant rs1858830 C allele was associated with ASD in 101 new families (P=0.033). Two other genes in the MET signaling pathway also may confer risk. A haplotype of the SERPINE1 gene exhibited significant association. In addition, the PLAUR promoter variant rs344781 T allele was associated with ASD by both FBAT (P=0.006) and case-control analyses (P=0.007). The PLAUR promoter rs344781 relative risk was 1.93 (95% confidence interval [CI]: 1.12-3.31) for genotype TT and 2.42 (95% CI: 1.38-4.25) for genotype CT compared to genotype CC. Gene-gene interaction analyses suggested a significant interaction between MET and PLAUR. These data further support our hypothesis that genetic susceptibility impacting multiple components of the MET signaling pathway contributes to ASD risk. En ligne : http://dx.doi.org/10.1002/aur.27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=931 [article] Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder [Texte imprimé et/ou numérique] / Daniel B. CAMPBELL, Auteur ; Antonio M. PERSICO, Auteur ; James S. SUTCLIFFE, Auteur ; Chun LI, Auteur ; Pat LEVITT, Auteur . - 2008 . - p.159-168. Langues : Anglais (eng) in Autism Research > 1-3 (June 2008) . - p.159-168 Mots-clés : genetic association plasminogen PLAUR uPAR SERPINE1 brain cerebral-cortex Index. décimale : PER Périodiques Résumé : A functional promoter variant of the gene encoding the MET receptor tyrosine kinase alters SP1 and SUB1 transcription factor binding, and is associated with autism spectrum disorder (ASD). Recent analyses of postmortem cerebral cortex from ASD patients revealed altered expression of MET protein and three transcripts encoding proteins that regulate MET signaling, hepatocyte growth factor (HGF), urokinase plasminogen activator receptor (PLAUR) and plasminogen activator inhibitor-1 (SERPINE1). To address potential risk conferred by multiple genes in the MET signaling pathway, we screened all exons and 5 promoter regions for variants in the five genes encoding proteins that regulate MET expression and activity. Identified variants were genotyped in 664 families (2,712 individuals including 1,228 with ASD) and 312 unrelated controls. Replicating our initial findings, family-based association test (FBAT) analyses demonstrated that the MET promoter variant rs1858830 C allele was associated with ASD in 101 new families (P=0.033). Two other genes in the MET signaling pathway also may confer risk. A haplotype of the SERPINE1 gene exhibited significant association. In addition, the PLAUR promoter variant rs344781 T allele was associated with ASD by both FBAT (P=0.006) and case-control analyses (P=0.007). The PLAUR promoter rs344781 relative risk was 1.93 (95% confidence interval [CI]: 1.12-3.31) for genotype TT and 2.42 (95% CI: 1.38-4.25) for genotype CT compared to genotype CC. Gene-gene interaction analyses suggested a significant interaction between MET and PLAUR. These data further support our hypothesis that genetic susceptibility impacting multiple components of the MET signaling pathway contributes to ASD risk. En ligne : http://dx.doi.org/10.1002/aur.27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=931

Heterogeneity and the design of genetic studies in autism / James S. SUTCLIFFE in Autism Research, 1-4 (August 2008)  

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Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? / Lauren C. SHUFFREY in Autism Research, 10-8 (August 2017)  

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Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci / Lea K. DAVIS in Molecular Autism, (May 2012)  

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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 / Pauline CHASTE in Autism Research, 7-3 (June 2014)  

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Our vision for Autism Research / Anthony J. BAILEY in Autism Research, 1-2 (April 2008)  

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Shorter sleep duration is associated with social impairment and comorbidities in ASD / Olivia J. VEATCH in Autism Research, 10-7 (July 2017)  

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The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses / Joseph D. BUXBAUM in Molecular Autism, (May 2014)  

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Zn2+ reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder / Peter J. HAMILTON in Molecular Autism, (February 2015)  

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