催产素受体基因多态性 -rs237902- 与自闭症谱系障碍的严重程度相关：一项初步研究。

The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study.

机构信息

Batman District State Hospital, Child Psychiatry Outpatient Clinic, MA: 72070, Batman, Turkey.

Department of Child and Adolescent Psychiatry, Ege University School of Medicine, Bornova, Izmir, Turkey.

出版信息

Asian J Psychiatr. 2018 Jan;31:142-149. doi: 10.1016/j.ajp.2018.01.002. Epub 2018 Jan 31.

DOI:10.1016/j.ajp.2018.01.002

PMID:29428512

Abstract

INTRODUCTION

Previous studies showed the association of Autism Spectrum Disorder (ASD) and oxytocin receptor (OXTR) gene. We aimed to explore the OXTR gene single nucleotide polymorphisms (SNPs) across the ASD severity categories based on DSM-5.

METHOD

The whole encoding regions of the human OXTR gene were sequenced to identify the SNPs in 100 Turkish children with ASD. Genotypes of detected SNPs were also compared with the Childhood Autism Rating Scale (CARS) scores.

RESULTS

Disease severity of the patients carrying GA and AA genotypes (GA/AA) of rs237902 were found more severe compared to those carrying GG genotype (χ = 6.456, df = 2, p = .040). This finding was more powerful in boys (χ = 9.288, df = 2, p = .010). Similarly, GA/AA genotypes of rs237902 were found associated with higher CARS scores in boys (U = 650.5, r = 0.24, p = .021).

CONCLUSION

Significant relationship between the ASD severity categories of DSM-5 and rs237902 was shown for the first time.

摘要

简介

先前的研究表明自闭症谱系障碍（ASD）与催产素受体（OXTR）基因有关。我们旨在根据 DSM-5 探索 OXTR 基因单核苷酸多态性（SNPs）在 ASD 严重程度类别中的分布。

方法

对 100 名土耳其 ASD 儿童的人类 OXTR 基因的整个编码区进行测序，以确定 SNPs。还比较了检测到的 SNPs 的基因型与儿童自闭症评定量表（CARS）评分。

结果

与携带 GG 基因型的患者相比，携带 rs237902 的 GA 和 AA 基因型（GA/AA）的患者疾病严重程度更高（χ²=6.456，df=2，p=0.040）。在男孩中，这种发现更为有力（χ²=9.288，df=2，p=0.010）。同样，rs237902 的 GA/AA 基因型与男孩的更高 CARS 评分相关（U=650.5，r=0.24，p=0.021）。