去甲肾上腺素转运体基因与单纯注意缺陷多动障碍的关联研究

发布时间：2018-01-30 02:38

本文关键词： 注意缺陷多动障碍去甲肾上腺素转运体基因关联研究　出处：《中国心理卫生杂志》2014年02期 　论文类型：期刊论文

【摘要】：目的:探讨单纯注意缺陷多动障碍与去甲肾上腺素转运体基因(NET1)多态之间的关联。方法:依据美国精神障碍诊断与统计手册第4版(DSM-IV)诊断标准,采用儿童临床诊断性会谈量表(CDIS)进行共患病评定以及亚型划分,该量表将ADHD分为3个亚型:注意缺陷为主型(ADHD-I)、多动冲动为主型(ADHD-HI)和混合型(ADHD-C)。纳入936名健康对照和491例单纯ADHD儿童(含350个核心家系),其中有276例ADHD-I儿童,34例ADHD-HI儿童,181例ADHD-C儿童。进行NET1基因的6个单核苷酸多态性(SNPs)位点的基因型检测,采用传递不平衡检验、χ2检验对单个SNP位点及单体型与单纯ADHD进行关联分析。结果:家系研究结果显示,在女性单纯ADHD家系中,rs36009的C等位基因存在过度传递趋势(24 vs.10,P=0.016,校正P=0.090),由rs36009、rs2242447构成的TC单体型存在传递减少的趋势(13 vs.25,P=0.044,校正P=0.071)。分亚型分析显示,rs2279805的T等位基因在单纯ADHD-I家系以及男性单纯ADHD-I家系中存在过度传递趋势(86 vs.57,P=0.015,校正P=0.091)或者过度传递(71 vs.40,P=0.003,校正P=0.018)。在女性单纯ADHD-I家系中,rs36009的C等位基因存在过度传递(21 vs.7,P=0.008,校正P=0.039),rs36009、rs2242447构成的TC单体型存在传递减少的趋势(9 vs.21,P=0.029,校正P=0.058)。病例对照关联分析结果显示,rs3785143的C等位基因在单纯ADHD样本中的分布频率具有高于对照组的趋势(0.870 vs.0.832,P=0.010,校正P=0.056),在ADHD-I以及男性单纯ADHD-I样本中的分布频率高于对照组(0.882 vs.0.832,校正P=0.025)或者具有高于对照组的趋势(0.894 vs.0.842,P=0.010,校正P=0.054)。结论:NET1可能是单纯ADHD,尤其是单纯ADHD-I的易感基因。
[Abstract]:Objective: to investigate the association between pure attention deficit hyperactivity disorder (ADHD) and norepinephrine transporter gene (NET1) polymorphism. Methods: according to the American Manual for the diagnosis and Statistics of Mental Disorder, DSM-IV4). Diagnostic criteria. The children's clinical diagnostic interview scale (CDIS) was used to assess the prevalence and subtype of ADHD, which was divided into three subtypes: ADHD-I. 936 healthy controls and 491 simple ADHD children (including 350 nuclear families) were included in the study. There were 276 ADHD-I children with 34 ADHD-HI children. The genotypes of 6 single nucleotide polymorphisms (SNPs) of NET1 gene were detected in 181 children with ADHD-C. Transmission disequilibrium test was used. 蠂 2 test was used to analyze the association between single SNP locus and haplotype with simple ADHD. Results: the results of pedigree study showed that in female ADHD families. The C allele of rs36009 has a tendency of over-transference from 24 vs.10 to 0.016, corrected by rs36009 0.090. The haplotype of TC composed by rs2242447 has the tendency of decreasing transmission, 13 vs.25m P0.044, and corrected P0. 071. The subtype analysis shows that there is a tendency to decrease the transmission rate of TC haplotype. The T allele of rs2279805 has a tendency of over transmission in ADHD-I families and in male families with ADHD-I alone (86 vs.57). Correction of P0. 091) or over transmission of 71 vs.40, P0. 003, and correction of P0. 018. In female families with ADHD-I alone. The C allele of rs36009 was over-transferred to 21 vs.7, P0. 008, and corrected by p0. 039 and rs36009. The haplotype of TC constituted by rs2242447 showed a tendency of decreasing transmission. 9 vs.21 ~ (1) P0. 029, corrected by P0. 058. The results of case-control association analysis showed that there was a decrease in the transmission of TC haplotype. The distribution frequency of C allele of rs3785143 in simple ADHD samples was higher than that in control group (0.870 vs.0.832). The distribution frequency of ADHD-I and male simple ADHD-I samples was higher than that of control group (0.882 vs.0.832). Correction Pu 0.025) or with a trend higher than that of the control group (0.894 vs.0.842 P0. 010). Conclusion: 1. NET1 may be a simple susceptibility gene to ADHD, especially to ADHD-I.
【作者单位】：北京大学第六医院;北京大学精神卫生研究所;卫生部精神卫生学重点实验室(北京大学);
【基金】：国家自然科学基金(81071109,81301171) 教育部新世纪优秀人才支持计划基金项目(NCET-11-0013)
【分类号】：R749.94
【正文快照】： 注意缺陷多动障碍(attention-deficit/hyperac-tivity disorder,ADHD)是儿童期最常见的行为问题,主要表现为注意力不集中、多动和冲动等症状,其患病率为5.9%~7.1%[1]。ADHD是常见的遗传性精神障碍之一,一项基于双生子和寄养子的荟萃分析结果表明ADHD注意缺陷和多动冲动两个维

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