Wang Xuelai, Liang Shuang, Fujisawa Takashi X, Nishitani Shota, Tomoda Akemi, Zou Mingyang, Li Yang, Wu Lijie, Shinohara Kazuyuki
Department of Child and Adolescent Health, School of Public Health, Harbin Medical University, Harbin 150081, China.
Research Center for Child Mental Development, University of Fukui, Fukui 910-1193, Japan.
Neuro Endocrinol Lett. 2016 Nov;37(6):439-444.
Autism has a significant sex difference. This implies that the sex hormones might have effect on autism. Estrogens play an important role in early nervous system development and sex differentiation through estrogen receptors in brain. Thus, we tested the hypothesis that estrogen receptor alpha (ESR1) gene affects the pathogenesis of autism and related symptoms.
Genotypes of rs11155819 and rs2234693 were determined in boys with autism and normal boys from Chinese Han population. A case-control study was performed to explore the association between polymorphisms in ESR1 gene and autism susceptibility. Assessment tool was used to evaluate the neuropsychological developmental level of autistic children. Finally, we analyzed the association of these single nucleotide polymorphisms (SNPs) with specific symptoms.
The results showed no significant differences between cases and controls in the distribution of genotypes and allele frequencies of the two SNPs. However, rs11155819 TT genotype showed a lower neuropsychological development level among autistic children, especially in the aspects of fine motor and adaptation ability (p=0.028; p=0.042).
Polymorphisms of ESR1 are relevant to autism symptoms in Chinese Han children.
自闭症存在显著的性别差异。这意味着性激素可能对自闭症有影响。雌激素通过大脑中的雌激素受体在早期神经系统发育和性别分化中发挥重要作用。因此，我们检验了雌激素受体α（ESR1）基因影响自闭症发病机制及相关症状的假说。
在中国汉族人群中，对自闭症男孩和正常男孩测定rs11155819和rs2234693的基因型。进行病例对照研究以探讨ESR1基因多态性与自闭症易感性之间的关联。使用评估工具评估自闭症儿童的神经心理发育水平。最后，我们分析了这些单核苷酸多态性（SNP）与特定症状的关联。
结果显示，两个SNP的基因型和等位基因频率在病例组和对照组之间的分布无显著差异。然而，rs11155819的TT基因型在自闭症儿童中表现出较低的神经心理发育水平，尤其是在精细运动和适应能力方面（p = 0.028；p = 0.042）。
ESR1基因多态性与中国汉族儿童的自闭症症状相关。
