NPR1基因启动子区甲基化水平与中国北方汉族孤独症谱系障碍的相关性研究

doi:10.11852/zgetbjzz2017-25-07-02

中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (7): 652-655.DOI: 10.11852/zgetbjzz2017-25-07-02

NPR1基因启动子区甲基化水平与中国北方汉族孤独症谱系障碍的相关性研究

李海欣, 梁爽, 杨晓蕾, 孙艺, 韩盼盼, 姜喜涛, 孙彩虹, 武丽杰

哈尔滨医科大学公共卫生学院儿少卫生与妇幼保健学教研室,黑龙江哈尔滨 150081

收稿日期:2017-01-11 发布日期:2017-07-10 出版日期:2017-07-10
通讯作者: 武丽杰,E-mail:wulijiehyd@126.com
作者简介:李海欣(1990-),女,江苏人,硕士在读,主要研究方向为孤独症谱系障碍病因学探索。

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

Department of Child & Adolescent Health and Maternal Health Care,Public Health College,Harbin Medical University, Harbin, Heilongjiang 150081,China

Received:2017-01-11 Online:2017-07-10 Published:2017-07-10
Contact: WU Li-jie,E-mail:wulijiehyd@126.com
Supported by:
国家自然科学基金项目(81202221)

摘要/Abstract

摘要： 目的检测北方汉族孤独症谱系障碍(ASD)患儿NPR1基因启动子区的甲基化水平,并探讨其与ASD的相关性。方法应用焦磷酸测序法检测9对同卵双生ASD样本、30例ASD患儿和30例正常儿童在NPR1基因启动子区2个位点(Chr.1:153652122,Chr.1:153652129)的甲基化水平,并分析其与ASD患儿社交反应量表(SRS)评分之间的相关性。结果 2对同卵双生非共患同胞间在2个检测位点的甲基化水平差异均高于界限值,且ASD病例和对照间比较,差异有统计学意义(P<0.05)。此外,ASD患儿的甲基化水平与SRS量表中“孤独症行为方式”评分呈正相关(P<0.05)。结论 ASD患儿在NPR1基因启动子区的甲基化水平存在异常,且这种异常的甲基化水平与ASD的行为方式相关。

关键词: 孤独症谱系障碍, NPR1基因, 焦磷酸测序法, DNA甲基化, 社交反应量表

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

中图分类号:

R179

李海欣, 梁爽, 杨晓蕾, 孙艺, 韩盼盼, 姜喜涛, 孙彩虹, 武丽杰. NPR1基因启动子区甲基化水平与中国北方汉族孤独症谱系障碍的相关性研究[J]. 中国儿童保健杂志, 2017, 25(7): 652-655.

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]. journal1, 2017, 25(7): 652-655.

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NPR1基因启动子区甲基化水平与中国北方汉族孤独症谱系障碍的相关性研究

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

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