1 Tepecik Teaching and Research Hospital, İzmir, Turkey.
2 Ege University, İzmir, Turkey.
J Atten Disord. 2019 May;23(7):702-711. doi: 10.1177/1087054717706757. Epub 2017 May 6.
Children with ADHD show substantial deficits in social cognitive abilities. Oxytocin, mediated through its specific receptor (OXTR), is involved in the regulation of social behavior and social cognition.
The entire coding sequence of the human OXT and OXTR genes were sequenced to identify mutations and single nucleotide polymorphisms (SNPs) in 151 children with ADHD (ADHD-combined, n = 51; inattentive subtype, n = 50; ADHD-C plus conduct disorder [CD], n = 50; 11-18 years) and 100 healthy controls.
We examined the association of three detected SNPs of OXTR with social cognition deficits. A significant association was shown between the children with ADHD and children with CT/TT genotypes of rs4686302 (χ = 3.695; p = .037). ADHD children with CT/TT genotype for the OXTR rs4686302 performed significantly lower on the facial emotion recognition task than those with CC genotype.
OXTR rs4686302 polymorphism was shown to be a genetic marker in social cognition deficits in ADHD children.
患有注意缺陷多动障碍（ADHD）的儿童在社会认知能力方面存在明显缺陷。催产素通过其特定受体（OXTR）介导，参与调节社会行为和社会认知。
对 151 名 ADHD 儿童（ADHD-混合型，n = 51；注意力不集中亚型，n = 50；ADHD-C 合并品行障碍，n = 50；年龄 11-18 岁）和 100 名健康对照者的人 OXT 和 OXTR 基因的整个编码序列进行测序，以鉴定突变和单核苷酸多态性（SNPs）。
我们研究了 OXTR 三个检测到的 SNP 与社会认知缺陷的关联。在 rs4686302 处的 OXTR 基因中，ADHD 儿童和 CT/TT 基因型儿童与 CC 基因型儿童之间存在显著关联（χ=3.695；p=0.037）。OXTR rs4686302 基因型为 CT/TT 的 ADHD 儿童在面部情绪识别任务中的表现明显低于 CC 基因型儿童。
OXTR rs4686302 多态性被证明是 ADHD 儿童社会认知缺陷的遗传标记。
