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 'genotyping'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder / Thorsten M. KRANZ in Autism Research, 9-10 (October 2016)
[article]
Titre : Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Thorsten M. KRANZ, Auteur ; Marnie KOPP, Auteur ; Regina WALTES, Auteur ; Michael SACHSE, Auteur ; Eftichia DUKETIS, Auteur ; Tomasz A. JARCZOK, Auteur ; Franziska DEGENHARDT, Auteur ; Katharina GÖRGEN, Auteur ; Jobst MEYER, Auteur ; Christine M. FREITAG, Auteur ; Andreas G. CHIOCCHETTI, Auteur Article en page(s) : p.1036-1045 Langues : Anglais (eng) Mots-clés : meta-analysis autism spectrum disorder oxytocin receptor genotyping social interaction endophenotype genetics oxytocin Index. décimale : PER Périodiques Résumé : Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR?=?1.48, CI95?=?1.06-2.08, P?=?0.022) for the minor A allele of variant rs237889G>A in sample 1 (N?=?135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N?=?542 families), this finding was confirmed (OR?=?1.12; CI95?=?1.01–1.24, random effects P?=?0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview – revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). En ligne : http://dx.doi.org/10.1002/aur.1597 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294
in Autism Research > 9-10 (October 2016) . - p.1036-1045[article] Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder [Texte imprimé et/ou numérique] / Thorsten M. KRANZ, Auteur ; Marnie KOPP, Auteur ; Regina WALTES, Auteur ; Michael SACHSE, Auteur ; Eftichia DUKETIS, Auteur ; Tomasz A. JARCZOK, Auteur ; Franziska DEGENHARDT, Auteur ; Katharina GÖRGEN, Auteur ; Jobst MEYER, Auteur ; Christine M. FREITAG, Auteur ; Andreas G. CHIOCCHETTI, Auteur . - p.1036-1045.
Langues : Anglais (eng)
in Autism Research > 9-10 (October 2016) . - p.1036-1045
Mots-clés : meta-analysis autism spectrum disorder oxytocin receptor genotyping social interaction endophenotype genetics oxytocin Index. décimale : PER Périodiques Résumé : Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR?=?1.48, CI95?=?1.06-2.08, P?=?0.022) for the minor A allele of variant rs237889G>A in sample 1 (N?=?135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N?=?542 families), this finding was confirmed (OR?=?1.12; CI95?=?1.01–1.24, random effects P?=?0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview – revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). En ligne : http://dx.doi.org/10.1002/aur.1597 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294 Risperidone plasma concentrations are associated with hyperprolactinemia in autism spectrum disorder children: The impact of CYP2D6 polymorphisms / Monpat CHAMNANPHON in Research in Autism Spectrum Disorders, 96 (August 2022)
[article]
Titre : Risperidone plasma concentrations are associated with hyperprolactinemia in autism spectrum disorder children: The impact of CYP2D6 polymorphisms Type de document : Texte imprimé et/ou numérique Auteurs : Monpat CHAMNANPHON, Auteur ; Natchaya VANWONG, Auteur ; Santirhat PROMMAS, Auteur ; Napatrupron KOOMDEE, Auteur ; Rattanaporn SUKPRASONG, Auteur ; Jiratha RACHANAKUL, Auteur ; Nutthan NUNTHARADTHANAPHONG, Auteur ; Yaowaluck HONGKAEW, Auteur ; Shobana JOHN, Auteur ; Nattawat NGAMSAMUT, Auteur ; Nopphadol NUNTAMOOL, Auteur ; Penkhae LIMSILA, Auteur ; Chonlaphat SUKASEM, Auteur Article en page(s) : 102002 Langues : Anglais (eng) Mots-clés : genotyping Prolactin ASD Risperidone Allele-specific primer extension Luminex xTAG Chemiluminescence immunoassay Index. décimale : PER Périodiques Résumé : Background Risperidone causes hyperprolactinemia by blocking D2 receptors on lactotrophs anterior pituitary, which prevents prolactin secretion inhibition. Risperidone is converted to 9-hydroxyrisperidone by the CYP2D6 enzyme. Polymorphisms in CYP2D6 may affect serum prolactin and could be a predictor of hyperprolactinemia. The goal of this study was to see if there was an association between CYP2D6 variants, risperidone dose, clinical data and serum prolactin levels in Thai children and adolescents with autism spectrum disorder (ASD). Method In 107 Thai ASD patients on risperidone, allele-specific primer extension and multiplex PCR platforms were used to genotype the CYP2D6 gene. The chemiluminescence immunoassay (CLIA) technique was used to measure fasting serum prolactin levels. Results The median serum prolactin level was 16.25?ng/mL (IQR; 10.43-22.18), and patients with CYP2D6*1/*5 (6.54%) had substantially lower prolactin levels than those with CYP2D6*1/*1 [median; 11.2?ng/mL (IQR; 3.95-21.10) vs. 21.3 (IQR; 14.43-32.18), p=0.032]. CYP2D6*1/*10, *10/*10, and *10/*41 produced less prolactin than *1/*1 (wild type). Furthermore, gender and risperidone dose were associated with significantly different prolactin levels with p-value 0.02 and 0.006, respectively. Multivariate analysis showed a significant association of serum prolactin level with body mass index and risperidone dose (p<0.05). Conclusions Our study showed that CYP2D6 carriers of absent and decreased functional alleles had lower serum prolactin levels in Thai ASD patients treated with risperidone treatment; this is important to clinicians, indicating that they should consider about CYP2D6 genotyping before beginning risperidone in ASD patients. CYP2D6 genotypes might be a predictor for levels of prolactin in clinical treatment. En ligne : https://doi.org/10.1016/j.rasd.2022.102002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=480
in Research in Autism Spectrum Disorders > 96 (August 2022) . - 102002[article] Risperidone plasma concentrations are associated with hyperprolactinemia in autism spectrum disorder children: The impact of CYP2D6 polymorphisms [Texte imprimé et/ou numérique] / Monpat CHAMNANPHON, Auteur ; Natchaya VANWONG, Auteur ; Santirhat PROMMAS, Auteur ; Napatrupron KOOMDEE, Auteur ; Rattanaporn SUKPRASONG, Auteur ; Jiratha RACHANAKUL, Auteur ; Nutthan NUNTHARADTHANAPHONG, Auteur ; Yaowaluck HONGKAEW, Auteur ; Shobana JOHN, Auteur ; Nattawat NGAMSAMUT, Auteur ; Nopphadol NUNTAMOOL, Auteur ; Penkhae LIMSILA, Auteur ; Chonlaphat SUKASEM, Auteur . - 102002.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 96 (August 2022) . - 102002
Mots-clés : genotyping Prolactin ASD Risperidone Allele-specific primer extension Luminex xTAG Chemiluminescence immunoassay Index. décimale : PER Périodiques Résumé : Background Risperidone causes hyperprolactinemia by blocking D2 receptors on lactotrophs anterior pituitary, which prevents prolactin secretion inhibition. Risperidone is converted to 9-hydroxyrisperidone by the CYP2D6 enzyme. Polymorphisms in CYP2D6 may affect serum prolactin and could be a predictor of hyperprolactinemia. The goal of this study was to see if there was an association between CYP2D6 variants, risperidone dose, clinical data and serum prolactin levels in Thai children and adolescents with autism spectrum disorder (ASD). Method In 107 Thai ASD patients on risperidone, allele-specific primer extension and multiplex PCR platforms were used to genotype the CYP2D6 gene. The chemiluminescence immunoassay (CLIA) technique was used to measure fasting serum prolactin levels. Results The median serum prolactin level was 16.25?ng/mL (IQR; 10.43-22.18), and patients with CYP2D6*1/*5 (6.54%) had substantially lower prolactin levels than those with CYP2D6*1/*1 [median; 11.2?ng/mL (IQR; 3.95-21.10) vs. 21.3 (IQR; 14.43-32.18), p=0.032]. CYP2D6*1/*10, *10/*10, and *10/*41 produced less prolactin than *1/*1 (wild type). Furthermore, gender and risperidone dose were associated with significantly different prolactin levels with p-value 0.02 and 0.006, respectively. Multivariate analysis showed a significant association of serum prolactin level with body mass index and risperidone dose (p<0.05). Conclusions Our study showed that CYP2D6 carriers of absent and decreased functional alleles had lower serum prolactin levels in Thai ASD patients treated with risperidone treatment; this is important to clinicians, indicating that they should consider about CYP2D6 genotyping before beginning risperidone in ASD patients. CYP2D6 genotypes might be a predictor for levels of prolactin in clinical treatment. En ligne : https://doi.org/10.1016/j.rasd.2022.102002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=480