Les niveaux d'oxytocine sérique et un polymorphisme génétique des récepteurs d'oxytocine (rs2254298) révèlent les déficits sociaux chez les enfants et les adolescents avec un diagnostic de troubles du spectre de l'autisme

Aperçu: G.M.

Les résultats de l'étude indiquent que les personnes avec un diagnostic de TSA peuvent présenter une dysrégulation dans la neuropeptide ocytocine en fonction des changements dans l'expression du gène OXTR ainsi que des altérations induites par l'environnement du système oxytocinergique pour déterminer leurs déficits sociaux

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Front Neurosci. 2017 Apr 21;11:221. doi: 10.3389/fnins.2017.00221. eCollection 2017.

Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spectrum Disorders

Yang S¹, Dong X¹, Guo X¹, Han Y¹, Song H², Gao L¹, Dai W¹, Su Y¹, Zhang X¹.

Author information

1

Department of Maternal, Child and Adolescent Health, School of Public Health, Tianjin Medical UniversityTianjin, China.

2

Department of Applied Science, The College of William and MaryWilliamsburg, VA, USA.

Abstract

The neuropeptide oxytocin (OT) and its receptor (OXTR) have been predicted to be involved in the regulation of social functioning in autism spectrum disorders (ASD). Objective of the study was to investigate serum OT levels and the OXTR rs2254298 polymorphism in Chinese Han children and adolescents with ASD as well as to identify their social deficits relevant to the oxytocinergic system. We tested serum OT levels using ELISA in 55 ASD subjects and 110 typically developing (TD) controls as well as genotyped the OXTR rs2254298 polymorphism using PCR-RFLP in 100 ASD subjects and 232 TD controls. Autistic symptoms were assessed by the Autism Behavior Checklist (ABC) and the Childhood Autism Rating Scale (CARS). There were no significant associations between OXTR rs2254298 polymorphism and ASD, serum OT levels and age, as well as serum OT levels and intelligent quotient (IQ) in both ASD and TD groups. However, ASD subjects exhibited elevated serum OT levels compared to TD controls and positive correlations between serum OT levels and "adaptation to change score" in the CARS and CARS total scores. Moreover, in the ASD group, significant relationships were revealed between the single-nucleotide polymorphism (SNP) rs2254298 and serum OT levels, the category "stereotypes and object use" in the ABC and the category "adaptation to change" in the CARS. These findings indicated that individuals with ASD may exhibit a dysregulation in OT on the basis of changes in OXTR gene expression as well as environmentally induced alterations of the oxytocinergic system to determine their social deficits.

PMID:28484366

PMCID:PMC5399030

DOI:10.3389/fnins.2017.00221