中文摘要：

目的：探讨。肾上腺素能d1A受体基因（ADRAlA）多态性与注意缺陷多动障碍（ADHD）共患学习困难（LD）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）标准，诊断ADHD、划分临床亚型并评定共患病。采用中国韦氏儿童智力量表（ChineseWechslerIntelligenceScaleforChildren，C—WISC）评估智商。入组678例ADHD共患LD的儿童（含457个核心家系），1137例ADHD未共患LD的儿童（含792个核心家系）及936名正常对照。进行ADRAlA基因3个单核苷酸多态性位点（SNPs）的基因型检测，采用传递不平衡检验、，检验对单个SNP位点及单体型与ADHD及其表型进行关联分析，采用协方差分析探讨基因与ADHD儿童智商的关联。结果：家系研究显示，rsl7426222位点的C等位基因（校正P=0．026）及由rsl7426222、rs573514、rs3808585组成的CAC单体型（校正P=0．011），在ADHD共患LD家系中存在过度传递。在ADHD共患LD样本中，rs573514位点的A等位基因频率具有高于对照组的趋势（0．596VS．0．557，校正P=0．071），控制性别、年龄后该关联仍存在（P〈0．05）。在ADHD未共患LD中，家系与病例对照研究均未发现任何关联（P〉0．05）；将ADHD共患／未共患LD合并后，关联均消失（P〉0．05）。协方差分析显示，rs573514位点基因型与ADHD儿童的操作智商存在关联（P〈0．05），AA基因型携带者操作智商低于AG[（95±15）VS．（97±15），P〈0．05]、GG[（95±15）VS．（98±14），P=0．007]基因型携带者。结论：ADRAlA可能与ADHD共患LD存在关联，ADHD共患LD与否可能存在遗传学差异；ADRAlA可能与ADHD操作性智商存在关联。

英文摘要：

]Objective： To explore the association between ADRA1A with attention-deficit/hyperactivity disorder （ADHD） comorbid learning disability （LD）. Methods： The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition （DSM-IV） were used to make clinical diagnosis of ADHD and comorbidities. Totally 678 children with ADHD comorbid LD （including 457 trios）, 1137 children with ADHD not comorbid LD （including 792 trios） and 936 normal controls were enrolled for genotyping of three single nucleotide polymorphisms （SNPs） of AD- RA1A. Both family-based association and case-control studies were used to investigate the association of each SNP and/or haplotypes with ADHD using transmission disequilibrium test （TDT） and chi-square test by Haploview soft- ware. In addition, analysis of covariance （ANCOVA） was used to explore the association between ADRA1A with the intelligence of ADHD children, which is measured by Chinese Wechsler Intelligence Scale for Children （C-WISC）. Results： For family-based analyses, the C allele of rs17426222 （empirical P = 0. 026） and the CAC haplotype con- sisted of rs17426222-rs573514-rs3808585 （empirical P = 0. 011 ） were over-transmitted in ADHD comorbid LD tri- os. The A allele of rs573514 showed higher frequency in ADHD comorbid LD than normal controls （0. 596 vs. 0. 557, empirical P = 0. 071）, even after adjustment of gender and age using logistic regression analyses （ P = 0. 048）. However, no significant association was found for ADHD without LD, neither from family-based associa- tion test nor case-control study （Ps 〉 0. 05）. In addition, no significant association retained after combining ADHD with and without LD （Ps 〉 0.05）. The ANCOVA results showed that the genotypes of rs573514 were associated with the performance intelligence quotient （PIQ） of ADHD children （P 〈 0. 05）, indicating lower scores in AA genotype carriers compared to AG [（95 ± 15） vs. （97 ± 15）, P 〈0. 05] and GG carders [（9