Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families / M. WOODBURY-SMITH in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.5 Titre : Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families Type de document : Texte imprimé et/ou numérique Auteurs : M. WOODBURY-SMITH, Auteur ; Deborah A. BILDER, Auteur ; J. MORGAN, Auteur ; L. JEROMINSKI, Auteur ; T. DARLINGTON, Auteur ; T. DYER, Auteur ; Andrew D. PATERSON, Auteur ; H. COON, Auteur Article en page(s) : p.5 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Genetic association  Genome-wide linkage  Head circumference (HC) Index. décimale : PER Périodiques Résumé : BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis. The Illumina 6K SNP linkage panel was used, and analyses were carried out using the SOLAR implemented variance components model. Loci identified in this way formed the target for subsequent association analysis using the Illumina OmniExpress chip and imputed genotypes. A modification of the qTDT was used as implemented in SOLAR. RESULTS: We identified a linkage signal spanning 6p21.31 to 6p22.2 (maximum LOD = 3.4). Although targeted association did not find evidence of association with any SNP overall, in one family with the strongest evidence of linkage, there was evidence for association (rs17586672, p = 1.72E-07). CONCLUSIONS: Although this region does not overlap with ASD linkage signals in these same samples, it has been associated with other psychiatric risk, including ADHD, developmental dyslexia, schizophrenia, specific language impairment, and juvenile bipolar disorder. The genome-wide significant linkage signal represents the first reported observation of a potential quantitative trait locus for HC in ASD and may be relevant in the context of complex multivariate risk likely leading to ASD. En ligne : http://dx.doi.org/10.1186/s11689-017-9187-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families [Texte imprimé et/ou numérique] / M. WOODBURY-SMITH, Auteur ; Deborah A. BILDER, Auteur ; J. MORGAN, Auteur ; L. JEROMINSKI, Auteur ; T. DARLINGTON, Auteur ; T. DYER, Auteur ; Andrew D. PATERSON, Auteur ; H. COON, Auteur . - p.5. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.5 Mots-clés : Autism spectrum disorder (ASD)  Genetic association  Genome-wide linkage  Head circumference (HC) Index. décimale : PER Périodiques Résumé : BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis. The Illumina 6K SNP linkage panel was used, and analyses were carried out using the SOLAR implemented variance components model. Loci identified in this way formed the target for subsequent association analysis using the Illumina OmniExpress chip and imputed genotypes. A modification of the qTDT was used as implemented in SOLAR. RESULTS: We identified a linkage signal spanning 6p21.31 to 6p22.2 (maximum LOD = 3.4). Although targeted association did not find evidence of association with any SNP overall, in one family with the strongest evidence of linkage, there was evidence for association (rs17586672, p = 1.72E-07). CONCLUSIONS: Although this region does not overlap with ASD linkage signals in these same samples, it has been associated with other psychiatric risk, including ADHD, developmental dyslexia, schizophrenia, specific language impairment, and juvenile bipolar disorder. The genome-wide significant linkage signal represents the first reported observation of a potential quantitative trait locus for HC in ASD and may be relevant in the context of complex multivariate risk likely leading to ASD. En ligne : http://dx.doi.org/10.1186/s11689-017-9187-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

Generalizability and reproducibility of functional connectivity in autism / J. B. KING in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 27 p. Titre : Generalizability and reproducibility of functional connectivity in autism Type de document : Texte imprimé et/ou numérique Auteurs : J. B. KING, Auteur ; M. B. D. PRIGGE, Auteur ; C. K. KING, Auteur ; J. MORGAN, Auteur ; F. WEATHERSBY, Auteur ; J. C. FOX, Auteur ; D. C. DEAN, Auteur ; A. FREEMAN, Auteur ; J. A. M. VILLARUZ, Auteur ; Karen L. KANE, Auteur ; Erin D. BIGLER, Auteur ; A. L. ALEXANDER, Auteur ; N. LANGE, Auteur ; B. ZIELINSKI, Auteur ; J. E. LAINHART, Auteur ; Jeffrey S. ANDERSON, Auteur Article en page(s) : 27 p. Langues : Anglais (eng) Mots-clés : Autism spectrum conditions  Functional connectivity MRI  Replicability  Reproducibility  Resting-state  fMRI Index. décimale : PER Périodiques Résumé : Background: Autism is hypothesized to represent a disorder of brain connectivity, yet patterns of atypical functional connectivity show marked heterogeneity across individuals. Methods: We used a large multi-site dataset comprised of a heterogeneous population of individuals with autism and typically developing individuals to compare a number of resting-state functional connectivity features of autism. These features were also tested in a single site sample that utilized a high-temporal resolution, long-duration resting-state acquisition technique. Results: No one method of analysis provided reproducible results across research sites, combined samples, and the high-resolution dataset. Distinct categories of functional connectivity features that differed in autism such as homotopic, default network, salience network, long-range connections, and corticostriatal connectivity, did not align with differences in clinical and behavioral traits in individuals with autism. One method, lag-based functional connectivity, was not correlated to other methods in describing patterns of resting-state functional connectivity and their relationship to autism traits. Conclusion: Overall, functional connectivity features predictive of autism demonstrated limited generalizability across sites, with consistent results only for large samples. Different types of functional connectivity features do not consistently predict different symptoms of autism. Rather, specific features that predict autism symptoms are distributed across feature types. En ligne : https://dx.doi.org/10.1186/s13229-019-0273-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Generalizability and reproducibility of functional connectivity in autism [Texte imprimé et/ou numérique] / J. B. KING, Auteur ; M. B. D. PRIGGE, Auteur ; C. K. KING, Auteur ; J. MORGAN, Auteur ; F. WEATHERSBY, Auteur ; J. C. FOX, Auteur ; D. C. DEAN, Auteur ; A. FREEMAN, Auteur ; J. A. M. VILLARUZ, Auteur ; Karen L. KANE, Auteur ; Erin D. BIGLER, Auteur ; A. L. ALEXANDER, Auteur ; N. LANGE, Auteur ; B. ZIELINSKI, Auteur ; J. E. LAINHART, Auteur ; Jeffrey S. ANDERSON, Auteur . - 27 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 27 p. Mots-clés : Autism spectrum conditions  Functional connectivity MRI  Replicability  Reproducibility  Resting-state  fMRI Index. décimale : PER Périodiques Résumé : Background: Autism is hypothesized to represent a disorder of brain connectivity, yet patterns of atypical functional connectivity show marked heterogeneity across individuals. Methods: We used a large multi-site dataset comprised of a heterogeneous population of individuals with autism and typically developing individuals to compare a number of resting-state functional connectivity features of autism. These features were also tested in a single site sample that utilized a high-temporal resolution, long-duration resting-state acquisition technique. Results: No one method of analysis provided reproducible results across research sites, combined samples, and the high-resolution dataset. Distinct categories of functional connectivity features that differed in autism such as homotopic, default network, salience network, long-range connections, and corticostriatal connectivity, did not align with differences in clinical and behavioral traits in individuals with autism. One method, lag-based functional connectivity, was not correlated to other methods in describing patterns of resting-state functional connectivity and their relationship to autism traits. Conclusion: Overall, functional connectivity features predictive of autism demonstrated limited generalizability across sites, with consistent results only for large samples. Different types of functional connectivity features do not consistently predict different symptoms of autism. Rather, specific features that predict autism symptoms are distributed across feature types. En ligne : https://dx.doi.org/10.1186/s13229-019-0273-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

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