多巴胺β-羟化酶基因与注意缺陷多动障碍多动冲动亚型的关联研究  

Association analysis of dopamine β-hydroxylase gene and hyperactivity impulsive subtype of attention-deficit /hyperactivity disorder

作　　者：吉宁[1] 管丽丽[1] 陈芸[1] 刘璐[1] 李海梅[1] 高倩[1] 杨莉[1] 钱秋谨[1] 王玉凤[1] 

机构地区：[1]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),北京100191

出　　处：《中国心理卫生杂志》2014年第6期429-433,共5页Chinese Mental Health Journal

基　　金：国家自然科学基金(81201059);国家重点基础研究发展计划(973计划)(2014CB846104)

摘　　要：目的:探讨多巴胺β-羟化酶基因(DBH)与注意缺陷多动障碍多动冲动亚型(ADHD-HI)的关联情况。方法:选取符合美国精神障碍诊断与统计手册第4版诊断标准的99例ADHD-HI患儿(含77个核心家系,来自2092例ADHD样本)及599例正常儿童,采用高通量实时荧光定量聚合酶链式反应(PCR)方法检测DBH基因5个SNPs的基因型,使用plink软件分别进行χ2检验和传递不平衡检验,结果进行假阳性结果错误率控制(FDR)法校正。结果:病例对照研究中,病例组的rs1076150(病例对照频率0.933 vs.0.880)、rs1611115(0.231 vs.0.154)、rs2873804(0.885 vs.0.803)的T等位基因和rs1548364(0.882 vs.0.807)的A等位基因的频率经过FDR校正后高于对照组(校正后P<0.05);家系资料中进行传递不平衡检验,发现rs1076150、rs2873804的T等位基因和rs1548364的A等位基因的频率经过FDR校正后,存在过度传递(校正后P<0.05);而rs1611115的T等位基因经过校正后存在过度传递的趋势(校正后P=0.054)。结论:多巴胺β-羟化酶基因可能与注意缺陷多动障碍多动冲动亚型存在关联。Objective： To examine the association between dopamine ^-hydroxylase gene and hyperactivity im- pulsive subtype of attention-deficit/hyperactivity disorder. Methods： Blood DNA samples from 99 unrelated ADHD- HI children （ including 77 trios, from 2092 ADHD children） and 599 unaffected （healthy） controls were included in this study. The diagnosis was based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition （DSM-IV）. Five single nucleotide polymorphisms （SNPs） of DBH gene were genotyped implementing Taq-ManTM real-time polymerase chain reaction（PCR） genotyping technique. The chi-square test and transmission disequilibri- um test （TDT） were employed for statistical analyses using plink software; false discovery rate （FDR） control was used to evaluate gene-wide statistical significance. Results： In case-control analysis, the frequencies of the T allele of rs1076150 （ case-control frequencies 0. 933 vs. 0. 880） / rs1611115 （0. 231 vs. 0. 154）/ rs2873804 （0. 885 vs. 0. 803）, and the frequencies of the A allele of rs1548364 （0. 882 vs. 0. 807） were significantly higher in ADHD- HI after FDR test （ empirical P 〈 0. 05 ）. In TDT analysis, T allele of rs1076150, rs2873804, the A allele of rs1548364 was preferentially transmitted in ADHD-HI （empirical P 〈 0. 05） and T allele of rsl611115 showed a trend of over-transmission after FDR test （empirical P = 0. 054）. Conclusion： These results provide some evidence that DBH gene may be associated with attention-deficit/hyperactivity disorder-hyperactivity impulsive subtype.

关 键 词：注意缺陷多动障碍 多动冲动亚型 多巴胺β-羟化酶 关联研究 

分 类 号：R749.94[医药卫生—神经病学与精神病学]