修改稿22839-李增清-染色体1q12区段IL6R基因多态性与儿童哮喘易感性的研究-final.doc

染色体1q12区段IL6R基因多态性与儿童哮喘易感性的研究 摘要 目的：检测染色体1q12区段IL6R基因多态性与儿童发生支气管哮喘易感性的关系。方法： 150名支气管哮喘患儿为支气管哮喘组。150名健康儿童为对照组。采用质谱单核苷酸多态性(SNP)技术,对两组儿童的IL6R基因进行分析。结果：两组IL6基因位点的分布符合Hardy-Weinburg平衡定律。两组IL6R基因rs4845374位点的基因型与等位基因相比较，无明显差异(χ2值分别为3.442和3.701；P值分别为0.179和0.088)。两组IL6R基因rs2228145位点的基因型与等位基因相比较，差异均有统计学意义(χ2值分别为6.635和9.200；P值分别为0.036和0.003)。结论：IL6R基因rs4845374位点与儿童支气管哮喘无相关性，而rs2228145位点多态性与儿童支气管哮喘有相关性。 关键词：IL6R；基因多态性；哮喘；儿童 中图分类号：R725.6 文献标识码：A 文章编号：1673-6273（2016） Study on the Relationship between Genetic Polymorphisms of Interleukin-6R and Childhood Bronchial Asthmatic Susceptibility ABSTRACT Objective: To study the relationship between polymorphisms of interleukin (IL)-6R and bronchial asthma in children. Methods: A total of 150 children with bronchial asthma were included in the study as bronchial asthma group. Meanwhile, 150 healthy children were included as control group. Then IL6R gene was analyzed by single nucleotide polymorphisms (SNP) technique. Results: IL6R gene was in Hardy-Weinburg balance. There was no significant difference in rs4845374 of IL6R gene between two groups (χ2 =3.442 and 3.701; P =0.179 and 0.088). However, there was significant difference in rs2228145 of IL6R gene between two groups (χ2 =6.635 and 9.200; P =0.036 and 0.003). Conclusions: The rs4845374 has no relationship with bronchial asthma, while rs2228145 is related with bronchial asthma of children. Key words: Interleukin 6R;　Single nucleotide polymorphism;　Asthma; Child Chinese Library Classification(CLC): R725.6 Document code: A Article ID: 1673-6273(2016) 前言 儿童支气管哮喘是一种儿童呼吸系统的常见病和多发病。其在遗传因素和环境因素的双重作用而发生发展。迄今为止，有关儿童支气管哮喘的病因和发病机制尚在探索阶段。目前主要有环境学说和遗传学说两大类理论体系来解释儿童支气管哮喘的发病机理。环境学说主要集中在从环境过敏原的角度来试图解释儿童支气管哮喘的发病机理；遗传学说主要试图从遗传因素来说明儿童支气管哮喘的本质是一种遗传性疾病。这两种学说都能够从一个侧面反映了儿童支气管哮喘的本质，但是都不够全面和完善。 近年来，随着分子生物学技术的高速发展。从分子生物学的角度，可以为阐明儿童支气管哮喘的病因和病理提供一个新颖的手段，从而更好地开展预防和治疗的工作。另外，白细胞介素(interleukin, IL)6R作为一种新发现的儿童支气管哮喘的易感基因正在得到越来越广泛的关注。为了在分子遗传学水平阐明儿童支气管哮喘的发病机理，本研究选择IL6R基因进行研究，探讨染色体1q12区段IL6R基因多态性与儿童发生支气管哮喘易感性的关系