Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay / Olivia J. VEATCH in Journal of Autism and Developmental Disorders, 45-1 (January 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-1 (January 2015) . - p.100-110 Titre : Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay Type de document : texte imprimé Auteurs : Olivia J. VEATCH, Auteur ; Julie S. PENDERGAST, Auteur ; Melissa J. ALLEN, Auteur ; Roberta M. LEU, Auteur ; Carl Hirschie JOHNSON, Auteur ; Sarah H. ELSEA, Auteur ; Beth A. MALOW, Auteur Article en page(s) : p.100-110 Langues : Anglais (eng) Mots-clés : Comorbidities  Genetic analyses  Phenotyping  Phenotypic subgroups  Biomarkers  Endophenotypes Index. décimale : PER Périodiques Résumé : Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ≤ 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r2 = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes. En ligne : http://dx.doi.org/10.1007/s10803-014-2197-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 [article] Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay [texte imprimé] / Olivia J. VEATCH, Auteur ; Julie S. PENDERGAST, Auteur ; Melissa J. ALLEN, Auteur ; Roberta M. LEU, Auteur ; Carl Hirschie JOHNSON, Auteur ; Sarah H. ELSEA, Auteur ; Beth A. MALOW, Auteur . - p.100-110. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-1 (January 2015) . - p.100-110 Mots-clés : Comorbidities  Genetic analyses  Phenotyping  Phenotypic subgroups  Biomarkers  Endophenotypes Index. décimale : PER Périodiques Résumé : Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ≤ 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r2 = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes. En ligne : http://dx.doi.org/10.1007/s10803-014-2197-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258

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