Association of estrogen receptor alpha polymorphisms with symptoms of autism among Chinese Han children.
OBJECTIVE
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.


METHODS
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.


RESULTS
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).


CONCLUSIONS
Polymorphisms of ESR1 are relevant to autism symptoms in Chinese Han children.
Department of Child and Adolescent Health, School of Public Health, Harbin Medical University, Harbin 150081, China.
Xuelai
X
Wang
Department of Child and Adolescent Health, School of Public Health, Harbin Medical University, Harbin 150081, China.
Shuang
S
Liang
Research Center for Child Mental Development, University of Fukui, Fukui 910-1193, Japan.
Takashi X
TX
Fujisawa
Department of Neurobiology and Behavior, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8523, Japan.
Shota
S
Nishitani
Research Center for Child Mental Development, University of Fukui, Fukui 910-1193, Japan.
Akemi
A
Tomoda
Department of Child and Adolescent Health, School of Public Health, Harbin Medical University, Harbin 150081, China.
Mingyang
M
Zou
Department of Child and Adolescent Health, School of Public Health, Harbin Medical University, Harbin 150081, China.
Yang
Y
Li
Department of Child and Adolescent Health, School of Public Health, Harbin Medical University, Harbin 150081, China.
Lijie
L
Wu
Department of Neurobiology and Behavior, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8523, Japan.
Kazuyuki
K
Shinohara
D044466:Asian People / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha