离子型谷氨酸受体基因遗传变异与儿童注意缺陷多动障碍关联性研究

doi:10.11852/zgetbjzz2022-1372

中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (9): 945-950.DOI: 10.11852/zgetbjzz2022-1372

离子型谷氨酸受体基因遗传变异与儿童注意缺陷多动障碍关联性研究

熊萍¹, 朱红敏¹, 黄馨², 吴静², 林晶³, 钟严艳³

1.华中科技大学同济医学院附属武汉市儿童医院,湖北武汉 430014;
2.华中科技大学同济医学院公共卫生学院;
3.华中科技大学医院

收稿日期:2022-11-21 修回日期:2023-02-08 发布日期:2023-08-31 出版日期:2023-09-10
通讯作者: 钟严艳,E-mail:232705440@qq.com
作者简介:熊萍(1971-),女,主治医师,主要从事儿童神经发育相关疾病的诊断、发病机制及康复工作。
基金资助:
武汉市卫生健康委科技计划项目(WX18D55);湖北省高等学校省级教学研究项目(2021071)

Association between genetic variation of ionized glutamate receptors and attention deficit hyperactivity disorder

XIONG Ping¹, ZHU Hongmin¹, HUANG Xin², WU Jing², LIN Jing³, ZHONG Yanyan³

1. Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan,Hubei 430014, China;
2. School of Public Health, Tongji Medical College, Huazhong University of Science and Technology;
3. Hospital of Huazhong University of Science and Technology

Received:2022-11-21 Revised:2023-02-08 Online:2023-09-10 Published:2023-08-31
Contact: ZHONG Yanyan,E-mail:232705440@qq.com

摘要/Abstract

摘要： 目的探讨离子型谷氨酸受体(iGluRs)基因遗传变异与儿童注意缺陷多动障碍(ADHD)的关联性,为阐明ADHD发病机制提供理论依据。方法对ADHD潜在候选基因GRIN2A、GRIN2B、GRIK1、GRIK4、GRID2采用病例-对照研究,2018年8月—2019年12月在武汉市儿童医院招募320例ADHD汉族儿童为ADHD组,355例正常儿童作为对照组。通过Conners父母症状问卷(PSQ)评价儿童ADHD症状,分析单个位点与ADHD发病风险的关联性,检测单个位点与ADHD症状的关联。结果 ADHD组和对照组的年龄、性别比、智商的差异无统计学意义(P>0.05)。GRID2基因上rs1385405位点TT基因型频率在两组的差异有统计学意义(P=0.001),该位点上携带TT基因型的个体出现ADHD风险是携带GG基因型个体的2.725倍(OR=2.725)。在ADHD-C亚型中该多态性位点各基因型频率之间差异有统计学意义(P=0.004),携带TT基因型的个体出现ADHD-C风险是携带GG基因型个体的2.343倍(OR=2.343)。此外,该位点与ADHD症状之间存在关联,携带各基因型的个体PSQ总分间差异具有统计学意义(F=6.711,P=0.001)。结论在中国汉族儿童中,GRID2基因上的多态性位点rs1385405与ADHD易感性有关,TT基因型为发病风险因素。

关键词: 离子型谷氨酸受体, 注意缺陷多动障碍, 遗传, 基因

Abstract: Objective To analyze the association between genetic variation of ionized glutamate receptors (iGluRs) and attention deficit hyperactivity disorder (ADHD), so as to provide a theoretical basis for elucidating the pathogenesis of ADHD. Methods A case-control study was conducted for the potential candidate genes of ADHD, including GRIN2A, GRIN2B, GRIK1, GRIK4 and GRID2. A total of 320 ADHD children were recruited as the ADHD group in Wuhan Children's Hospital from August 2018 to December 2019, meanwhile 355 typically developed children were enrolled in the control group. All children were evaluated by Conners Parental Syndrome Questionnaire (PSQ). The associations of a single site with the risk of ADHDand ADHD symptoms were examined. Results There were no significant differences in age, sex ratio and intelligence quotient between the ADHD and control groups (P>0.05). The TT genotype frequency of rs1385405 locus on GRID2 gene showed a significant difference between the two groups (P=0.001). Individuals carrying the TT genotype at this locus were 2.725 times more likely to develop ADHD than those carrying the GG genotype (OR=2.725). In the ADHD-C subtype, there was a significant difference between the genotype frequency of this polymorphic locus (P=0.004). The risk of ADHD-C in individuals carrying TT genotype was 2.343 times as high as that in individuals carrying GG genotype (OR=2.343). In addition, there was an association between this locus and ADHD symptoms, with a significant difference in total PSQ scores among individuals carrying different genotypes (F=6.711, P=0.001). Conclusion GRID2-rs1385405 is associated with the susceptibility of ADHD in Chinese Han children, and TT genotype is a risk factor.

Key words: ionic glutamate receptor, attention deficit hyperactivity disorder, heredity, gene

中图分类号:

R749.94

熊萍, 朱红敏, 黄馨, 吴静, 林晶, 钟严艳. 离子型谷氨酸受体基因遗传变异与儿童注意缺陷多动障碍关联性研究[J]. 中国儿童保健杂志, 2023, 31(9): 945-950.

XIONG Ping, ZHU Hongmin, HUANG Xin, WU Jing, LIN Jing, ZHONG Yanyan. Association between genetic variation of ionized glutamate receptors and attention deficit hyperactivity disorder[J]. Chinese Journal of Child Health Care, 2023, 31(9): 945-950.

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离子型谷氨酸受体基因遗传变异与儿童注意缺陷多动障碍关联性研究

Association between genetic variation of ionized glutamate receptors and attention deficit hyperactivity disorder

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