Autism Endophenotypes and Quantitative Trait Loci / Rita M. CANTOR

Public ISBD in Autism Spectrum Disorders / David G. AMARAL Titre : Autism Endophenotypes and Quantitative Trait Loci Type de document : Texte imprimé et/ou numérique Auteurs : Rita M. CANTOR, Auteur Année de publication : 2011 Importance : p.690-704 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 in Autism Spectrum Disorders / David G. AMARAL Autism Endophenotypes and Quantitative Trait Loci [Texte imprimé et/ou numérique] / Rita M. CANTOR, Auteur . - 2011 . - p.690-704. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139

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Offering to Share: How to Put Heads Together in Autism Neuroimaging / Matthew K. BELMONTE in Journal of Autism and Developmental Disorders, 38-1 (January 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.2-13 Titre : Offering to Share: How to Put Heads Together in Autism Neuroimaging Type de document : Texte imprimé et/ou numérique Auteurs : Matthew K. BELMONTE, Auteur ; Anders M. DALE, Auteur ; Christos DAVATZIKOS, Auteur ; Guido GERIG, Auteur ; Martha R. HERBERT, Auteur ; Robert T. SCHULTZ, Auteur ; Janet E. LAINHART, Auteur ; Declan G. MURPHY, Auteur ; Thomas A. ZEFFIRO, Auteur ; Susan LEVI-PEARL, Auteur ; Clara LAJONCHERE, Auteur ; Diane C. CHUGANI, Auteur ; Rita M. CANTOR, Auteur ; Elizabeth H. AYLWARD, Auteur ; Allan L. REISS, Auteur ; Joseph PIVEN, Auteur ; Nancy J. MINSHEW, Auteur ; Eric COURCHESNE, Auteur ; David G. AMARAL, Auteur ; John C. MAZZIOTTA, Auteur ; Alan C. EVANS, Auteur ; Stephen R. DAGER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Sophia A. COLAMARINO, Auteur Année de publication : 2008 Article en page(s) : p.2-13 Langues : Anglais (eng) Mots-clés : Imaging MRI PET Morphometry Segmentation Data-sharing Index. décimale : PER Périodiques Résumé : Data sharing in autism neuroimaging presents scientific, technical, and social obstacles. We outline the desiderata for a data-sharing scheme that combines imaging with other measures of phenotype and with genetics, defines requirements for comparability of derived data and recommendations for raw data, outlines a core protocol including multispectral structural and diffusion-tensor imaging and optional extensions, provides for the collection of prospective, confound-free normative data, and extends sharing and collaborative development not only to data but to the analytical tools and methods applied to these data. A theme in these requirements is the need to preserve creative approaches and risk-taking within individual laboratories at the same time as common standards are provided for these laboratories to build on. En ligne : http://dx.doi.org/10.1007/s10803-006-0352-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315 [article] Offering to Share: How to Put Heads Together in Autism Neuroimaging [Texte imprimé et/ou numérique] / Matthew K. BELMONTE, Auteur ; Anders M. DALE, Auteur ; Christos DAVATZIKOS, Auteur ; Guido GERIG, Auteur ; Martha R. HERBERT, Auteur ; Robert T. SCHULTZ, Auteur ; Janet E. LAINHART, Auteur ; Declan G. MURPHY, Auteur ; Thomas A. ZEFFIRO, Auteur ; Susan LEVI-PEARL, Auteur ; Clara LAJONCHERE, Auteur ; Diane C. CHUGANI, Auteur ; Rita M. CANTOR, Auteur ; Elizabeth H. AYLWARD, Auteur ; Allan L. REISS, Auteur ; Joseph PIVEN, Auteur ; Nancy J. MINSHEW, Auteur ; Eric COURCHESNE, Auteur ; David G. AMARAL, Auteur ; John C. MAZZIOTTA, Auteur ; Alan C. EVANS, Auteur ; Stephen R. DAGER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Sophia A. COLAMARINO, Auteur . - 2008 . - p.2-13. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.2-13 Mots-clés : Imaging MRI PET Morphometry Segmentation Data-sharing Index. décimale : PER Périodiques Résumé : Data sharing in autism neuroimaging presents scientific, technical, and social obstacles. We outline the desiderata for a data-sharing scheme that combines imaging with other measures of phenotype and with genetics, defines requirements for comparability of derived data and recommendations for raw data, outlines a core protocol including multispectral structural and diffusion-tensor imaging and optional extensions, provides for the collection of prospective, confound-free normative data, and extends sharing and collaborative development not only to data but to the analytical tools and methods applied to these data. A theme in these requirements is the need to preserve creative approaches and risk-taking within individual laboratories at the same time as common standards are provided for these laboratories to build on. En ligne : http://dx.doi.org/10.1007/s10803-006-0352-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315

Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder / Donna WERLING in Molecular Autism, (February 2014)  

Public ISBD [article]  inMolecular Autism > (February 2014) Titre : Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Donna WERLING, Auteur ; Jennifer K. LOWE, Auteur ; Rui LUO, Auteur ; Rita M. CANTOR, Auteur ; Daniel H. GESCHWIND, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood. Here, we aimed to identify familial and sex-differential risk loci in the largest available, uniformly ascertained, densely genotyped sample of multiplex ASD families from the Autism Genetics Resource Exchange (AGRE), and to compare results with earlier findings from AGRE. From a total sample of 1,008 multiplex families, we performed genome-wide, non-parametric linkage analysis in a discovery sample of 847 families, and separately on subsets of families with only male, affected children (male-only, MO) or with at least one female, affected child (female-containing, FC). Loci showing evidence for suggestive linkage (logarithm of odds =2.2) in this discovery sample, or in previous AGRE samples, were re-evaluated in an extension study utilizing all 1,008 available families. For regions with genome-wide significant linkage signal in the discovery stage, those families not included in the corresponding discovery sample were then evaluated for independent replication of linkage. Association testing of common single nucleotide polymorphisms (SNPs) was also performed within suggestive linkage regions. We observed an independent replication of previously observed linkage at chromosome 20p13 (P 0.01), while loci at 6q27 and 8q13.2 showed suggestive linkage in our extended sample. Suggestive sex-differential linkage was observed at 1p31.3 (MO), 8p21.2 (FC), and 8p12 (FC) in our discovery sample, and the MO signal at 1p31.3 was supported in our expanded sample. No sex-differential signals met replication criteria, and no common SNPs were significantly associated with ASD within any identified linkage regions. With few exceptions, analyses of subsets of families from the AGRE cohort identify different risk loci, consistent with extreme locus heterogeneity in ASD. Large samples appear to yield more consistent results, and sex-stratified analyses facilitate the identification of sex-differential risk loci, suggesting that linkage analyses in large cohorts are useful for identifying heritable risk loci. Additional work, such as targeted re-sequencing, is needed to identify the specific variants within these loci that are responsible for increasing ASD risk. En ligne : http://dx.doi.org/10.1186/2040-2392-5-13 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder [Texte imprimé et/ou numérique] / Donna WERLING, Auteur ; Jennifer K. LOWE, Auteur ; Rui LUO, Auteur ; Rita M. CANTOR, Auteur ; Daniel H. GESCHWIND, Auteur. Langues : Anglais (eng) in Molecular Autism > (February 2014) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood. Here, we aimed to identify familial and sex-differential risk loci in the largest available, uniformly ascertained, densely genotyped sample of multiplex ASD families from the Autism Genetics Resource Exchange (AGRE), and to compare results with earlier findings from AGRE. From a total sample of 1,008 multiplex families, we performed genome-wide, non-parametric linkage analysis in a discovery sample of 847 families, and separately on subsets of families with only male, affected children (male-only, MO) or with at least one female, affected child (female-containing, FC). Loci showing evidence for suggestive linkage (logarithm of odds =2.2) in this discovery sample, or in previous AGRE samples, were re-evaluated in an extension study utilizing all 1,008 available families. For regions with genome-wide significant linkage signal in the discovery stage, those families not included in the corresponding discovery sample were then evaluated for independent replication of linkage. Association testing of common single nucleotide polymorphisms (SNPs) was also performed within suggestive linkage regions. We observed an independent replication of previously observed linkage at chromosome 20p13 (P 0.01), while loci at 6q27 and 8q13.2 showed suggestive linkage in our extended sample. Suggestive sex-differential linkage was observed at 1p31.3 (MO), 8p21.2 (FC), and 8p12 (FC) in our discovery sample, and the MO signal at 1p31.3 was supported in our expanded sample. No sex-differential signals met replication criteria, and no common SNPs were significantly associated with ASD within any identified linkage regions. With few exceptions, analyses of subsets of families from the AGRE cohort identify different risk loci, consistent with extreme locus heterogeneity in ASD. Large samples appear to yield more consistent results, and sex-stratified analyses facilitate the identification of sex-differential risk loci, suggesting that linkage analyses in large cohorts are useful for identifying heritable risk loci. Additional work, such as targeted re-sequencing, is needed to identify the specific variants within these loci that are responsible for increasing ASD risk. En ligne : http://dx.doi.org/10.1186/2040-2392-5-13 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

Support for calcium channel gene defects in autism spectrum disorders / Ake Tzu-Hui LU in Molecular Autism, (December 2012)  

Public ISBD [article]  inMolecular Autism > (December 2012) . - 9 p. Titre : Support for calcium channel gene defects in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Ake Tzu-Hui LU, Auteur ; Xiaoxian DAI, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Rita M. CANTOR, Auteur Année de publication : 2012 Article en page(s) : 9 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Calcium channel genes  Common variants  Imputed SNPs  Association studies Index. décimale : PER Périodiques Résumé : BACKGROUND:Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.METHODS:A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the alpha1 subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.RESULTS:Four SNPs in three CCGs were associated with ASD. One, rs10848653, is located in CACNA1C, a gene in which rare de novo mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, rs198538 and rs198545, located in CACN1G, and a fourth, rs5750860, located in CACNA1I, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.CONCLUSIONS:These associations support a role for common CCG SNPs in ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-3-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Support for calcium channel gene defects in autism spectrum disorders [Texte imprimé et/ou numérique] / Ake Tzu-Hui LU, Auteur ; Xiaoxian DAI, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Rita M. CANTOR, Auteur . - 2012 . - 9 p. Langues : Anglais (eng) in Molecular Autism > (December 2012) . - 9 p. Mots-clés : Autism spectrum disorders  Calcium channel genes  Common variants  Imputed SNPs  Association studies Index. décimale : PER Périodiques Résumé : BACKGROUND:Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.METHODS:A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the alpha1 subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.RESULTS:Four SNPs in three CCGs were associated with ASD. One, rs10848653, is located in CACNA1C, a gene in which rare de novo mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, rs198538 and rs198545, located in CACN1G, and a fourth, rs5750860, located in CACNA1I, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.CONCLUSIONS:These associations support a role for common CCG SNPs in ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-3-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

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