CLOCK基因T3111C多态性与儿童注意缺陷多动障碍及相关睡眠障碍的关联研究

Association of CLOCK gene T3111C polymorphism with attention deficit hyperactivity disorder and related sleep disturbances in children

摘要:

目的：探讨CLOCK基因3’非编码区SNP 位点T3111C与儿童注意缺陷多动障碍（attention deficit hyperactivity disorder, ADHD）及相关睡眠障碍的关联性。方法：取无亲缘关系的ADHD患儿166名以及正常儿童（对照组）150名，根据睡眠障碍量表（Sleep Disturbance Scale for Children, SDSC）评分筛查睡眠障碍，采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术，检测ADHD组和对照组CLOCK基因的T3111C基因型和等位基因的频率分布。结果：CLOCK基因的T3111C基因型及等位基因频率分布在ADHD组和对照组之间差异有统计学意义（P<0.05），ADHD组中等位基因C频率显著高于对照组（χ2=7.254，P=0.007， OR=1.740，95%CI=1.160~2.612）。伴有睡眠障碍的ADHD患儿等位基因C频率显著高于不伴有睡眠障碍者（χ2=13.052，P<0.001，OR=2.766，95%CI=1.573~4.865）。结论：CLOCK基因T3111C位点与ADHD易感性存在关联，也是影响ADHD患儿相关睡眠障碍的重要因素。携带C等位基因的个体罹患ADHD以及ADHD相关睡眠障碍的相对风险增高。

Abstract:

OBJECTIVE: To examine the association between CLOCK gene T3111C polymorphism with attention deficit hyperactivity disorder (ADHD) and ADHD related sleep disturbances in children. METHODS: One hundred and sixty-six unrelated children with ADHD diagnosed according to DSM-IV criteria and a contorol group of 150 normal children were enrolled in this study. Parents filled out the Sleep Disturbance Scale for Children (SDSC). Genotype and allele frequencies of T3111C of the CLOCK gene were examined by PCR-restriction fragment length polymorphisms (PCR-RFLP). RESULTS: There were significant differences in the genotype and allele frequencies of T3111C of the CLOCK gene between the ADHD and control groups (P<0.05). C allele frequency in the ADHD group was significantly higher than in the control group (χ2=7.254, P=0.007, OR=1.740, 95%CI=1.160-2.612). The ADHD children with sleep disturbances were found to have higher C allele frequency than those without sleep disturbances (χ2=13.052, P<0.001, OR=2.766, 95%CI=1.573-4.865). CONCLUSIONS: There is an association between CLOCK gene T3111C polymorphism and both ADHD and related sleep disturbances in children. The individuals with C allele are susceptible to ADHD as well as ADHD related sleep disturbances.