Study on the association of methylation level of the promoter region of NPR1 gene with autism spectrum disorder in Han Chinese population in northern China

LI Hai-xin; LIANG Shuang; YANG Xiao-lei; SUN Yi; HAN Pan-pan; JIANG Xi-tao; SUN Cai-hong; WU Li-jie

doi:10.11852/zgetbjzz2017-25-07-02

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Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (7) : 652-655. DOI: 10.11852/zgetbjzz2017-25-07-02

Study on the association of methylation level of the promoter region of NPR1 gene with autism spectrum disorder in Han Chinese population in northern China

LI Hai-xin, LIANG Shuang, YANG Xiao-lei, SUN Yi, HAN Pan-pan, JIANG Xi-tao, SUN Cai-hong, WU Li-jie

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Abstract

Objective To investigate the DNA methylated status of the promoter region of NPR1 gene in autistic children and explore its role in the etiology of autism spectrum disorder (ASD). Methods Totally 9 pairs of ASD-related monozygotic twins, as well as 30 cases of confirmed autism and 30 healthy controls were selected.The DNA methylation level of the promoter region of NPR1 gene (Chr.1:153652122,Chr.1:153652129) was detected by pyrosequencing.The association of the methylation level of ASD cases with the symptoms of ASD which was evaluated by Social Responsiveness Scale (SRS) was analyzed using pearson's correlation analysis. Results A higher difference than standard was found within 2 pairs of ASD-discordant monozygotic twins on the methylation level of the detected loci.Compared with controls,autistic children had higher methylation levels (P<0.05).In addition,the correlation analysis showed a positive correlation between the autistic behavior pattern and the methylation level of the tested loci (P<0.05). Conclusion The methylation level of NPR1 gene in ASD children is abnormal and is positively related to the social behavior of ASD.

Key words

autism spectrum disorder / NPR1 gene / pyrosequencing / DNA methylation / Social Responsiveness Scale

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LI Hai-xin, LIANG Shuang, YANG Xiao-lei, SUN Yi, HAN Pan-pan, JIANG Xi-tao, SUN Cai-hong, WU Li-jie. Study on the association of methylation level of the promoter region of NPR1 gene with autism spectrum disorder in Han Chinese population in northern China[J]. Chinese Journal of Child Health Care. 2017, 25(7): 652-655 https://doi.org/10.11852/zgetbjzz2017-25-07-02

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