Previous pharmacological, human genetics, and animal models have implicated the nicotinic ace- tylcholine receptor α4 subunit （CHRNA4） gene in the pathogenesis of attention deficit/hyperactivity disorder （ADHD）. The objective of this study is to examine the genetic association between single nucleotide poly- morphisms in the CHRNA4 gene （rs2273502, rs1044396, rs1044397, and rs3827020 loci） and ADHD. Both case-control and family-based designs are used. Children aged 6 to 16 years were interviewed and assessed with the children behavior checklist and the revised conner＇ parent rating scale to identify probands. No significant differences in the frequency distribution of genotypes or alleles were found between the case and control groups. However, further haplotype analyses showed the CCGG haplotype on risk for ADHD in 164 case-control samples and the standard transmission disequilibrium test analyses suggest that the allele C of rs2273502 was over-trensferred in 98 ADHD parent-offspring trios. These findings suggest that the CHRNA4 gene may play a role in the pathogenesis of ADHD.
目的了解多巴胺D4受体(DRD4)基因第3外显子48 bp可重复序列多态性(DRD4 exonⅢ48 bp VNTR)与抽动秽语综合征(TS)共病抑郁的关系。方法选取符合美国精神疾病诊断统计手册第4版TS诊断标准的112例儿童作为研究对象(TS组),以71名健康儿童作为正常对照组。采用聚合酶链反应(PCR)等位基因分型技术检测DRD4 exonⅢ48 bp VNTR多态位点,分析该位点与TS的关联;采用儿童抑郁量表(CDI)测定TS儿童的抑郁水平。结果 112例TS儿童中29例(25.9%)共病抑郁。TS组及其亚组DRD4exonⅢ48 bp VNTR位点基因型及等位基因频率与正常对照组比较,差异均无统计学意义(P>0.05)。在TS组内,携带长重复等位基因组(61例)与短重复等位基因组(51例)CDI总分和因子分比较,差异均无统计学意义(P>0.05)。结论 DRD4 exonⅢ48 bp VNTR与TS共病抑郁之间可能不存在关联。
