【Objective】 To investigate the relationship between estrogen receptor polymorphisms and autistic children's clinical phenotype feature. 【Methods】 TaqMan Probes Real-time PCR was used to detect the genotypes of two SNPs of ER in 127 autistic children.The Children Autism Rating Scale(CARS)was used to evaluate clinical phenotype feature. 【Results】 There was no significant difference in mild-medium group and severe group of CARS scores between different genotypes of rs11155819 and rs1152582 (P>0.05).For rs11155819,significant difference was found in verbal communication subscale between genotypes C/T and T/T (P=0.048).For rs1152582,significant differences were found in nonverbal communication subscale and activity level subscale between genotypes C/C and G/G(P=0.035;P=0.030). 【Conclusions】 In rs11155819,the children with T/T genotype had more obvious verbal communication difficulty than the children with C/T genotype.In rs1152582,the children with C/C genotype had more obvious nonverbal communication difficulty and abnormal activity than the children with G/G genotype.
Key words
autism /
estrogen receptor /
gene polymorphisms /
clinical phenotype feature
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