2 recherche sur le mot-clé 'SLC1A1'

Brief Report: Glutamate Transporter Gene (SLC1A1) Single Nucleotide Polymorphism (rs301430) and Repetitive Behaviors and Anxiety in Children with Autism Spectrum Disorder / Kenneth D. GADOW in Journal of Autism and Developmental Disorders, 40-9 (September 2010)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 40-9 (September 2010) . - p.1139-1145 Titre : Brief Report: Glutamate Transporter Gene (SLC1A1) Single Nucleotide Polymorphism (rs301430) and Repetitive Behaviors and Anxiety in Children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Kenneth D. GADOW, Auteur ; Carla DEVINCENT, Auteur ; Jasmin ROOHI, Auteur ; Eli HATCHWELL, Auteur ; Sarah KIRSCH, Auteur Année de publication : 2010 Article en page(s) : p.1139-1145 Langues : Anglais (eng) Mots-clés : Autism Autism-spectrum-disorder SLC1A1 Obsessive–compulsive-behaviors Separation-anxiety Generalized-anxiety Index. décimale : PER Périodiques Résumé : Investigated association of single nucleotide polymorphism (SNP) rs301430 in glutamate transporter gene (SLC1A1) with severity of repetitive behaviors (obsessive–compulsive behaviors, tics) and anxiety in children with autism spectrum disorder (ASD). Mothers and/or teachers completed a validated DSM-IV-referenced rating scale for 67 children with autism spectrum disorder. Although analyses were not significant for repetitive behaviors, youths homozygous for the high expressing C allele had more severe anxiety than carriers of the T allele. Allelic variation in SLC1A1 may be a biomarker for or modifier of anxiety symptom severity in children with ASD, but study findings are best conceptualized as tentative pending replication with larger independent samples. En ligne : http://dx.doi.org/10.1007/s10803-010-0961-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=108 [article] Brief Report: Glutamate Transporter Gene (SLC1A1) Single Nucleotide Polymorphism (rs301430) and Repetitive Behaviors and Anxiety in Children with Autism Spectrum Disorder [texte imprimé] / Kenneth D. GADOW, Auteur ; Carla DEVINCENT, Auteur ; Jasmin ROOHI, Auteur ; Eli HATCHWELL, Auteur ; Sarah KIRSCH, Auteur . - 2010 . - p.1139-1145. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 40-9 (September 2010) . - p.1139-1145 Mots-clés : Autism Autism-spectrum-disorder SLC1A1 Obsessive–compulsive-behaviors Separation-anxiety Generalized-anxiety Index. décimale : PER Périodiques Résumé : Investigated association of single nucleotide polymorphism (SNP) rs301430 in glutamate transporter gene (SLC1A1) with severity of repetitive behaviors (obsessive–compulsive behaviors, tics) and anxiety in children with autism spectrum disorder (ASD). Mothers and/or teachers completed a validated DSM-IV-referenced rating scale for 67 children with autism spectrum disorder. Although analyses were not significant for repetitive behaviors, youths homozygous for the high expressing C allele had more severe anxiety than carriers of the T allele. Allelic variation in SLC1A1 may be a biomarker for or modifier of anxiety symptom severity in children with ASD, but study findings are best conceptualized as tentative pending replication with larger independent samples. En ligne : http://dx.doi.org/10.1007/s10803-010-0961-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=108

Family-based association testing of OCD-associated SNPs of SLC1A1 in an autism sample / Camille W. BRUNE in Autism Research, 1-2 (April 2008)  

Public ISBD [article]  inAutism Research > 1-2 (April 2008) . - p.108-113 Titre : Family-based association testing of OCD-associated SNPs of SLC1A1 in an autism sample Type de document : texte imprimé Auteurs : Camille W. BRUNE, Auteur ; Catherine LORD, Auteur ; Gregory L. HANNA, Auteur ; Eric COURCHESNE, Auteur ; Edwin H. Jr COOK, Auteur ; Bennett L. LEVENTHAL, Auteur ; Soo-Jeong KIM, Auteur Année de publication : 2008 Article en page(s) : p.108-113 Langues : Anglais (eng) Mots-clés : autism SLC1A1 OCD association Index. décimale : PER Périodiques Résumé : Reports identified the neuronal glutamate transporter gene, SLC1A1 (OMIM 133550, chromosome 9p24), as a positional and functional candidate gene for obsessive-compulsive disorder (OCD). The presence of obsessions and compulsions similar to OCD in autism, the identification of this region in a genome-wide linkage analysis of individuals with autism spectrum disorders (ASDs), and the hypothesized role of glutamate in ASDs make SLC1A1 a candidate gene for ASD as well. To test for association between SLC1A1 and autism, we typed three single nucleotide polymorphisms (SNPs, rs301430, rs301979, rs301434) previously associated with OCD in 86 strictly defined trios with autism. Family-Based Association Tests (FBAT) with additive and recessive models were used to check for association. Additionally, an rs301430-rs301979 haplotype identified for OCD was investigated. FBAT revealed nominally significant association between autism and one SNP under a recessive model. The G allele of rs301979 was undertransmitted (equivalent to overtransmission of the C allele under a dominant model) to individuals with autism (Z=-2.47, P=0.01). The G allele was also undertransmitted in the T-G haplotype under the recessive model (Z=-2.41, P=0.02). Both findings were also observed in the male-only sample. However, they did not withstand correction for multiple comparisons. En ligne : http://dx.doi.org/10.1002/aur.11 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=930 [article] Family-based association testing of OCD-associated SNPs of SLC1A1 in an autism sample [texte imprimé] / Camille W. BRUNE, Auteur ; Catherine LORD, Auteur ; Gregory L. HANNA, Auteur ; Eric COURCHESNE, Auteur ; Edwin H. Jr COOK, Auteur ; Bennett L. LEVENTHAL, Auteur ; Soo-Jeong KIM, Auteur . - 2008 . - p.108-113. Langues : Anglais (eng) in Autism Research > 1-2 (April 2008) . - p.108-113 Mots-clés : autism SLC1A1 OCD association Index. décimale : PER Périodiques Résumé : Reports identified the neuronal glutamate transporter gene, SLC1A1 (OMIM 133550, chromosome 9p24), as a positional and functional candidate gene for obsessive-compulsive disorder (OCD). The presence of obsessions and compulsions similar to OCD in autism, the identification of this region in a genome-wide linkage analysis of individuals with autism spectrum disorders (ASDs), and the hypothesized role of glutamate in ASDs make SLC1A1 a candidate gene for ASD as well. To test for association between SLC1A1 and autism, we typed three single nucleotide polymorphisms (SNPs, rs301430, rs301979, rs301434) previously associated with OCD in 86 strictly defined trios with autism. Family-Based Association Tests (FBAT) with additive and recessive models were used to check for association. Additionally, an rs301430-rs301979 haplotype identified for OCD was investigated. FBAT revealed nominally significant association between autism and one SNP under a recessive model. The G allele of rs301979 was undertransmitted (equivalent to overtransmission of the C allele under a dominant model) to individuals with autism (Z=-2.47, P=0.01). The G allele was also undertransmitted in the T-G haplotype under the recessive model (Z=-2.41, P=0.02). Both findings were also observed in the male-only sample. However, they did not withstand correction for multiple comparisons. En ligne : http://dx.doi.org/10.1002/aur.11 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=930