中文摘要：

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-J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、x2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.

英文摘要：

Objective：To investigate the association between NET1 and attention-deficit/hyperactivity disorder （ADHD only）.Methods：Based on The Diagnostic and Statistical Manual of Mental Disorders,Fourth Edition （DSM-Ⅳ） diagnosis criteria,Clinical Diagnostic Interview Scale （CDIS） was used to assesses comorbidities and the three DSM-Ⅳ subtypes：ADHD inattentive type （ADHD-I）,ADHD hyperactive-impulsive type （ADHD-HI）,and ADHD combined type （ADHD-C）.Totally 936 normal controls and 491 children with ADHD only （including 350 trios） were enrolled,including 276 children with ADHD-I only,34 with ADHD-HI only,181 with ADHD-C only.Six single nucleotide polymorphisms （SNPs） of NET1 were genotyped.Family-based association and case-control studies were conducted to investigate the association of each SNP and/or haplotypes with children with ADHD only using transmission disequilibrium test （TDT） and chi-square test.Results：For family-based analyses,the C allele of rs36009 had a tendency to be over-transmitted （24 vs.10,nominal P =0.016,empirical P =0.090） and the TC haplotype consisted of rs36009-rs2242447 had a tendency to be under-transmitted （13 vs.25,nominal P =0.044,empirical P =0.071） in female trios with ADHD only.For different subtypes,the T allele of rs22279805 had a tendency to be over-transmitted or was over-transmitted in trios with ADHD-I only （86 vs.57,nominal P =0.015,empirical P =0.091） and male trios with ADHD-I only （71 vs.40,nominal P =0.003,empirical P =0.018）.The C allele of rs36009 was over-transmitted （21 vs.7,nominal P =0.008,empirical P =0.039） and the TC haplotype consisted of rs36009-rs2242447 had a tendency to be under-transmitted （9 vs.21,nominal P =0.029,empirical P =0.058） in female trios with ADHD-I only.For case-control studies,the C allele of rs3785143 showed higher frequency in children with ADHD only than normal controls （0.870 vs.0.832,nominal P =0.010,empirical P =0.056）.For different subtypes,the C allele of rs3785143 showed