Department of Neurobiology and Behavior, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
Department of Occupational Therapy, Graduate School of Health Sciences, Nagasaki University, Nagasaki, Japan.
Res Dev Disabil. 2018 Nov;82:20-26. doi: 10.1016/j.ridd.2018.02.014. Epub 2018 Mar 8.
Previous studies on etiology of autism spectrum disorders (ASD) have shown strong contribution of hereditary factors. On the basis the heterogeneity in ASD symptoms, it is highly possible that each independent domain of ASD symptom is linked to a different set of genetic risk factors. However, few empirical investigations have been carried out to examine this hypothesis.
The aim of the present study was to investigate the association between single-nucleotide polymorphisms (SNPs) in estrogen receptor genes, which several previous studies have identified as potential risk factors of ASD, and the severity of each independent aspect of ASD symptom within an Asian clinical sample.
We investigated the association between severities of four ASD symptoms (Social Communication, Social Interaction, Stereotypies and Sensory Abnormalities, and Emotional Regulation) measured by childhood autism rating scale and SNPs in genes of estrogen receptor 1 and 2, ESR1 rs11155819 and ESR2 rs1152582, in 96 Japanese individuals with ASD.
The analysis revealed that severities in the impairment of social interaction and emotional regulation were linked to SNPs in ESR1 rs11155819 and ESR2 rs1152582, respectively. The effect of genotype was not observed for the other aspects of ASD symptoms.
These findings support our contention that the severity of each ASD symptom domain is determined by a distinct set of genetic risk factors.
先前有关自闭症谱系障碍（ASD）病因的研究表明遗传因素的作用非常显著。鉴于 ASD 症状存在异质性，每种 ASD 症状的独立领域都可能与一组不同的遗传风险因素相关联。然而，很少有实证研究来检验这一假说。
本研究旨在调查雌激素受体基因中的单核苷酸多态性（SNP）与 ASD 严重程度之间的关联，此前的一些研究已经确定这些 SNP 是 ASD 的潜在风险因素，本研究是在亚洲临床样本中进行的。
我们通过儿童自闭症评定量表（CARS）评估了 96 名 ASD 个体的四个 ASD 症状（社交沟通、社交互动、刻板行为和感觉异常、情绪调节）的严重程度，并研究了雌激素受体 1 和 2 基因（ESR1 rs11155819 和 ESR2 rs1152582）中的 SNP 与这些严重程度之间的关系。
分析结果表明，社会互动和情绪调节障碍的严重程度与 ESR1 rs11155819 和 ESR2 rs1152582 中的 SNP 有关。但是，对于 ASD 症状的其他方面，没有观察到基因型的影响。
这些发现支持了我们的观点，即每个 ASD 症状领域的严重程度由一组不同的遗传风险因素决定。
