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

doi:10.11852/zgetbjzz2015-23-03-03

中国儿童保健杂志 ›› 2015, Vol. 23 ›› Issue (3): 231-233.DOI: 10.11852/zgetbjzz2015-23-03-03

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

邵晓慧¹,陈琅²,刘世国³,衣明纪¹

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

收稿日期:2014-07-01 发布日期:2015-03-10 出版日期:2015-03-10
通讯作者: 衣明纪,E-mail:yimji@126.com
作者简介:邵晓慧(1989-),女,河北人,在读硕士研究生,研究方向为发育行为儿科。
基金资助:
国家自然科学基金资助项目(30971586,81371499)

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

SHAO Xiao-hui¹,CHEN Lang²,LIU Shi-guo³,YI Ming-ji¹

1 Department of Child Health Care,the Affiliated Hospital of Qingdao University,Qingdao,Shandong 266003,China;
2 Department of Pediatrics,the Fujian Provincial Hospital,Fuzhou,Fujian 350001,China;
3 Laboratory of Genetics,the Affiliated Hospital of Qingdao University,Qingdao,Shandong 266003,China

Received:2014-07-01 Online:2015-03-10 Published:2015-03-10
Contact: YI Ming-ji,E-mail:yimji@126.com

摘要/Abstract

摘要： 目的探讨中国汉族儿童中IL-1A rs17561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-1A rs17561三种基因型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-1A rs17561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。

关键词: Tourette综合征, 实时荧光PCR, 单核苷酸多态性, IL -1A

Abstract: 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.

Key words: Tourette syndrome, real-time PCR, single nucleotide polymorphisms, IL-1A

中图分类号:

R749.94

邵晓慧,陈琅,刘世国,衣明纪. 中国汉族儿童IL-1A rs17561基因多态性与Tourette综合征关系的研究[J]. 中国儿童保健杂志, 2015, 23(3): 231-233.

SHAO Xiao-hui,CHEN Lang,LIU Shi-guo,YI Ming-ji. Relative study between IL-1A rs17561 gene polymorphisms and susceptibility to Tourette Syndrome[J]. journal1, 2015, 23(3): 231-233.

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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

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