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 et/ou numérique 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 et/ou numérique] / 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

A pharmacogenetic study of escitalopram in autism spectrum disorders / Thomas OWLEY in Autism Research, 3-1 (February 2010)  

Public ISBD [article]  inAutism Research > 3-1 (February 2010) . - p.1-7 Titre : A pharmacogenetic study of escitalopram in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Thomas OWLEY, Auteur ; Edwin H. Jr COOK, Auteur ; Bennett L. LEVENTHAL, Auteur ; Camille W. BRUNE, Auteur ; Jeff SALT, Auteur ; Laura WALTON, Auteur ; Steve GUTER, Auteur ; Nelson AYUYAO, Auteur ; Robert D. GIBBONS, Auteur Année de publication : 2010 Article en page(s) : p.1-7 Langues : Anglais (eng) Mots-clés : autistic-disorder escitalopram pharmacogenetics open-label drug-treatment Index. décimale : PER Périodiques Résumé : Objective: To determine the effect of serotonin transporter polymorphism promoter region (5-HTTPLR) genotypic variation (low, intermediate, and high expression groups) on response to escitalopram treatment of children and adolescents with autism spectrum disorders (ASDs). Method: The study used a forced titration, open label design, with genotype blind until study completion. Participants were children and adolescents aged 4-17 years of age with a confirmed ASD (autistic disorder, Asperger's disorder, or pervasive developmental disorder, not otherwise specified). Results: There was an interaction between genotype group and time on the Aberrant Behavior Checklist (ABC) Irritability Subscale (primary outcome variable) (linear maximum marginal likelihood estimation=-4.84, Z=-2.89, SE=1.67, P=0.004). Examination of baseline to last visit revealed that a genotype grouping based on a previous study of platelet 5-HT uptake revealed less response in the genotype group that had S/S genotype for 5-HTTLPR and did not have a diplotype in intron 1 previously shown to be associated with increased platelet 5-HT uptake. Conclusion: This genotype-blind, prospective pharmacogenetic study found the group of subjects with associated with the lowest platelet 5-HT uptake from previous study had the smallest reduction in ABC-Irritability scores after open label treatment with escitalopram. Replication is necessary to confirm these findings. En ligne : http://dx.doi.org/10.1002/aur.109 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=993 [article] A pharmacogenetic study of escitalopram in autism spectrum disorders [Texte imprimé et/ou numérique] / Thomas OWLEY, Auteur ; Edwin H. Jr COOK, Auteur ; Bennett L. LEVENTHAL, Auteur ; Camille W. BRUNE, Auteur ; Jeff SALT, Auteur ; Laura WALTON, Auteur ; Steve GUTER, Auteur ; Nelson AYUYAO, Auteur ; Robert D. GIBBONS, Auteur . - 2010 . - p.1-7. Langues : Anglais (eng) in Autism Research > 3-1 (February 2010) . - p.1-7 Mots-clés : autistic-disorder escitalopram pharmacogenetics open-label drug-treatment Index. décimale : PER Périodiques Résumé : Objective: To determine the effect of serotonin transporter polymorphism promoter region (5-HTTPLR) genotypic variation (low, intermediate, and high expression groups) on response to escitalopram treatment of children and adolescents with autism spectrum disorders (ASDs). Method: The study used a forced titration, open label design, with genotype blind until study completion. Participants were children and adolescents aged 4-17 years of age with a confirmed ASD (autistic disorder, Asperger's disorder, or pervasive developmental disorder, not otherwise specified). Results: There was an interaction between genotype group and time on the Aberrant Behavior Checklist (ABC) Irritability Subscale (primary outcome variable) (linear maximum marginal likelihood estimation=-4.84, Z=-2.89, SE=1.67, P=0.004). Examination of baseline to last visit revealed that a genotype grouping based on a previous study of platelet 5-HT uptake revealed less response in the genotype group that had S/S genotype for 5-HTTLPR and did not have a diplotype in intron 1 previously shown to be associated with increased platelet 5-HT uptake. Conclusion: This genotype-blind, prospective pharmacogenetic study found the group of subjects with associated with the lowest platelet 5-HT uptake from previous study had the smallest reduction in ABC-Irritability scores after open label treatment with escitalopram. Replication is necessary to confirm these findings. En ligne : http://dx.doi.org/10.1002/aur.109 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=993

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