中国汉族儿童IL-1A rs17561基因多态性与Tourette综合征关系的研究

目的探讨中国汉族儿童中IL-1Ars17561基因多态性与Tourette综合征之间的关系。方法运用Taqman探针实时荧光PCR技术,检测300例Tourette综合征(Tourette syndrome,TS)患儿和291例健康对照者的IL-1A rs17561多态性位点等位基因和基因型的分布情况,并用χ2检验进行分析比较。结果 IL-1Ars17561三种基因型CC、CA和AA在TS病例组中的比率分别是83.7%、16.3%和0,在对照组中的比率分别是81.4%、16.5%和2.1%;等位基因C和A在病例组中的频率分别是91.8%和8.2%,在对照组中的频率分别是89.7%和10.3%。TS组和对照组的IL-1A rs17561多态性分布均符合Hardy-Weinberg平衡定律(TS组:P=0.124,对照组:P=0.065)。两组的基因型分布不同(χ2=6.354,P=0.041),但两组的等位基因频率分布差异无统计学意义(χ2=1.620,P=0.203,OR=1.293。95%CI:0.870~1.920)。结论中国汉族儿童中IL-1Ars17561基因多态性与TS有关联,IL-1A可能是TS的易感基因,但仍需在不同地区、不同疾病严重程度的人群中进行验证。

Relative study between IL-1A rs17561 gene polymorphisms and susceptibility to Tourette Syndrome

Objective To study relationship of IL-1A rs17561 gene polymorphisms and the susceptibility to Tourette syndrome (TS) in Chinese Han population. Methods A total of 300 TS patients and 291 healthy controls were included in this study.All DNA from those subjects were genotyped for IL-1A rs17561 SNP(single nucleotide polymorphisms) using predesigned Taqman probe real-time PCR genotyping assay.The genetic contribution of the SNP was evaluated using χ² test. Results The results of the genotypic and allelic distribution of IL-1A rs17561 SNP showed that the ratios of three genotype CC,CA,AA were 83.7%,16.3%,0 respectively in TS group and 81.4%,16.5%,2.1% respectively in control group,while the ratios of alleles C and A were 91.8%,8.2% respectively in TS group and 89.7%,10.3% respectively in control group.Both TS patients group and the control group were conform to the Hardy-Weinberg equilibrium(TS:P=0.124,control:P=0.065).Significant differences were found in genotypic frequency of the SNP between TS group and control group(χ²=6.354,P=0.041),while no significant difference was found in allelic frequency(χ²=1.620,P=0.203,OR=1.293,95%CI:0.870~1.920). Conclusions IL-1A rs17561 polymorphisms may be associated with susceptibility to TS in Chinese Han population.However,the results still need to be replicated in a larger sample size and different populations.