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

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

作　　者：邵晓慧[1] 陈琅[2] 刘世国[3] 衣明纪[1] 

机构地区：[1]青岛大学附属医院儿童保健科,山东青岛266003 [2]福建省立医院儿科,福建福州350001 [3]青岛大学附属医院遗传室,山东青岛266003

出　　处：《中国儿童保健杂志》2015年第3期231-233,共3页Chinese Journal of Child Health Care

基　　金：国家自然科学基金资助项目(30971586;81371499)

摘　　要：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χ^2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（χ^2=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（χ^2=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。Objective To study relationship of IL-1Ars17561 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-1Ars17561SNP（single nucleotide polymorphisms）using predesigned Taqman probe real-time PCR genotyping assay.The genetic contribution of the SNP was evaluated usingχ^2test. Results The results of the genotypic and allelic distribution of IL-1Ars17561 SNP showed that the ratios of three genotype CC,CA,AA were 83.7%,16.3%,0respectively 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（χ^2=6.354,P=0.041）,while no significant difference was found in allelic frequency（χ^2=1.620,P=0.203,OR=1.293,95%CI：0.870～1.920）. Conclusions IL-1Ars17561 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.

关 键 词：TOURETTE综合征 实时荧光PCR 单核苷酸多态性 IL-1A 

分 类 号：R749.94[医药卫生—神经病学与精神病学]