Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
2 recherche sur le mot-clé 'Single-nucleotide polymorphisms'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Single Nucleotide Polymorphisms Predict Symptom Severity of Autism Spectrum Disorder / Yun JIAO in Journal of Autism and Developmental Disorders, 42-6 (June 2012)
[article]
Titre : Single Nucleotide Polymorphisms Predict Symptom Severity of Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Yun JIAO, Auteur ; Rong CHEN, Auteur ; Xiaoyan KE, Auteur ; Lu CHENG, Auteur ; Kangkang CHU, Auteur ; Zuhong LU, Auteur ; Edward H. HERSKOVITS, Auteur Année de publication : 2012 Article en page(s) : p.971-983 Langues : Anglais (eng) Mots-clés : Autism-spectrum disorder Single-nucleotide polymorphisms Diagnostic model Genotype-phenotype analysis Data mining Index. décimale : PER Périodiques Résumé : Autism is widely believed to be a heterogeneous disorder; diagnosis is currently based solely on clinical criteria, although genetic, as well as environmental, influences are thought to be prominent factors in the etiology of most forms of autism. Our goal is to determine whether a predictive model based on single-nucleotide polymorphisms (SNPs) can predict symptom severity of autism spectrum disorder (ASD). We divided 118 ASD children into a mild/moderate autism group (n = 65) and a severe autism group (n = 53), based on the Childhood Autism Rating Scale (CARS). For each child, we obtained 29 SNPs of 9 ASD-related genes. To generate predictive models, we employed three machine-learning techniques: decision stumps (DSs), alternating decision trees (ADTrees), and FlexTrees. DS and FlexTree generated modestly better classifiers, with accuracy = 67%, sensitivity = 0.88 and specificity = 0.42. The SNP rs878960 in GABRB3 was selected by all models, and was related associated with CARS assessment. Our results suggest that SNPs have the potential to offer accurate classification of ASD symptom severity. En ligne : http://dx.doi.org/10.1007/s10803-011-1327-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=156
in Journal of Autism and Developmental Disorders > 42-6 (June 2012) . - p.971-983[article] Single Nucleotide Polymorphisms Predict Symptom Severity of Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Yun JIAO, Auteur ; Rong CHEN, Auteur ; Xiaoyan KE, Auteur ; Lu CHENG, Auteur ; Kangkang CHU, Auteur ; Zuhong LU, Auteur ; Edward H. HERSKOVITS, Auteur . - 2012 . - p.971-983.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-6 (June 2012) . - p.971-983
Mots-clés : Autism-spectrum disorder Single-nucleotide polymorphisms Diagnostic model Genotype-phenotype analysis Data mining Index. décimale : PER Périodiques Résumé : Autism is widely believed to be a heterogeneous disorder; diagnosis is currently based solely on clinical criteria, although genetic, as well as environmental, influences are thought to be prominent factors in the etiology of most forms of autism. Our goal is to determine whether a predictive model based on single-nucleotide polymorphisms (SNPs) can predict symptom severity of autism spectrum disorder (ASD). We divided 118 ASD children into a mild/moderate autism group (n = 65) and a severe autism group (n = 53), based on the Childhood Autism Rating Scale (CARS). For each child, we obtained 29 SNPs of 9 ASD-related genes. To generate predictive models, we employed three machine-learning techniques: decision stumps (DSs), alternating decision trees (ADTrees), and FlexTrees. DS and FlexTree generated modestly better classifiers, with accuracy = 67%, sensitivity = 0.88 and specificity = 0.42. The SNP rs878960 in GABRB3 was selected by all models, and was related associated with CARS assessment. Our results suggest that SNPs have the potential to offer accurate classification of ASD symptom severity. En ligne : http://dx.doi.org/10.1007/s10803-011-1327-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=156 SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder / Sören MERKER in Journal of Child Psychology and Psychiatry, 58-7 (July 2017)
[article]
Titre : SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : Sören MERKER, Auteur ; Andreas REIF, Auteur ; Georg C. ZIEGLER, Auteur ; Heike WEBER, Auteur ; Ute MAYER, Auteur ; Ann-Christine EHLIS, Auteur ; Annette CONZELMANN, Auteur ; Stefan JOHANSSON, Auteur ; Clemens MÜLLER-REIBLE, Auteur ; Indrajit NANDA, Auteur ; Thomas HAAF, Auteur ; Reinhard ULLMANN, Auteur ; Marcel ROMANOS, Auteur ; Andreas J. FALLGATTER, Auteur ; Paul PAULI, Auteur ; Tatyana STREKALOVA, Auteur ; Charline JANSCH, Auteur ; Alejandro ARIAS-VASQUEZ, Auteur ; Jan HAAVIK, Auteur ; Marta RIBASES, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur ; Jan K. BUITELAAR, Auteur ; Barbara FRANKE, Auteur ; Klaus-Peter LESCH, Auteur Article en page(s) : p.798-809 Langues : Anglais (eng) Mots-clés : Attention-deficit/hyperactivity disorder glucose transporter SLC2A3 single-nucleotide polymorphisms duplication copy number variants energy homeostasis frontostriatal network Index. décimale : PER Périodiques Résumé : Background Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of SLC2A3, encoding glucose transporter-3 (GLUT3). GLUT3 plays a critical role in cerebral glucose metabolism, providing energy for the activity of neurons, which, in turn, moderates the excitatory–inhibitory balance impacting both brain development and activity-dependent neural plasticity. We therefore aimed to provide additional genetic and functional evidence for GLUT3 dysfunction in ADHD. Methods Case–control association analyses of SLC2A3 single-nucleotide polymorphisms (SNPs) and CNVs were conducted in several European cohorts of patients with childhood and adult ADHD (SNP, n = 1,886 vs. 1,988; CNV, n = 1,692 vs. 1,721). These studies were complemented by SLC2A3 expression analyses in peripheral cells, functional EEG recordings during neurocognitive tasks, and ratings of food energy content. Results Meta-analysis of all cohorts detected an association of SNP rs12842 with ADHD. While CNV analysis detected a population-specific enrichment of SLC2A3 duplications only in German ADHD patients, the CNV + rs12842 haplotype influenced ADHD risk in both the German and Spanish cohorts. Duplication carriers displayed elevated SLC2A3 mRNA expression in peripheral blood cells and altered event-related potentials reflecting deficits in working memory and cognitive response control, both endophenotypic traits of ADHD, and an underestimation of energy units of high-caloric food. Conclusions Taken together, our results indicate that both common and rare SLC2A3 variation impacting regulation of neuronal glucose utilization and energy homeostasis may result in neurocognitive deficits known to contribute to ADHD risk. En ligne : http://dx.doi.org/10.1111/jcpp.12702 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316
in Journal of Child Psychology and Psychiatry > 58-7 (July 2017) . - p.798-809[article] SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder [Texte imprimé et/ou numérique] / Sören MERKER, Auteur ; Andreas REIF, Auteur ; Georg C. ZIEGLER, Auteur ; Heike WEBER, Auteur ; Ute MAYER, Auteur ; Ann-Christine EHLIS, Auteur ; Annette CONZELMANN, Auteur ; Stefan JOHANSSON, Auteur ; Clemens MÜLLER-REIBLE, Auteur ; Indrajit NANDA, Auteur ; Thomas HAAF, Auteur ; Reinhard ULLMANN, Auteur ; Marcel ROMANOS, Auteur ; Andreas J. FALLGATTER, Auteur ; Paul PAULI, Auteur ; Tatyana STREKALOVA, Auteur ; Charline JANSCH, Auteur ; Alejandro ARIAS-VASQUEZ, Auteur ; Jan HAAVIK, Auteur ; Marta RIBASES, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur ; Jan K. BUITELAAR, Auteur ; Barbara FRANKE, Auteur ; Klaus-Peter LESCH, Auteur . - p.798-809.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 58-7 (July 2017) . - p.798-809
Mots-clés : Attention-deficit/hyperactivity disorder glucose transporter SLC2A3 single-nucleotide polymorphisms duplication copy number variants energy homeostasis frontostriatal network Index. décimale : PER Périodiques Résumé : Background Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of SLC2A3, encoding glucose transporter-3 (GLUT3). GLUT3 plays a critical role in cerebral glucose metabolism, providing energy for the activity of neurons, which, in turn, moderates the excitatory–inhibitory balance impacting both brain development and activity-dependent neural plasticity. We therefore aimed to provide additional genetic and functional evidence for GLUT3 dysfunction in ADHD. Methods Case–control association analyses of SLC2A3 single-nucleotide polymorphisms (SNPs) and CNVs were conducted in several European cohorts of patients with childhood and adult ADHD (SNP, n = 1,886 vs. 1,988; CNV, n = 1,692 vs. 1,721). These studies were complemented by SLC2A3 expression analyses in peripheral cells, functional EEG recordings during neurocognitive tasks, and ratings of food energy content. Results Meta-analysis of all cohorts detected an association of SNP rs12842 with ADHD. While CNV analysis detected a population-specific enrichment of SLC2A3 duplications only in German ADHD patients, the CNV + rs12842 haplotype influenced ADHD risk in both the German and Spanish cohorts. Duplication carriers displayed elevated SLC2A3 mRNA expression in peripheral blood cells and altered event-related potentials reflecting deficits in working memory and cognitive response control, both endophenotypic traits of ADHD, and an underestimation of energy units of high-caloric food. Conclusions Taken together, our results indicate that both common and rare SLC2A3 variation impacting regulation of neuronal glucose utilization and energy homeostasis may result in neurocognitive deficits known to contribute to ADHD risk. En ligne : http://dx.doi.org/10.1111/jcpp.12702 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316