ORMDL3基因单核苷酸多态性与儿童哮喘相关性的研究
发布时间：2019-06-12 13:34
【摘要】：目的： 基于单核苷酸多态性（SNP）的全基因组关联性研究显示ORMDL3基因内以及周围的一些多态性标记与儿童哮喘相关，且这种相关性已在不同种族人群中得到证实，但该相关性在中国人群中的研究尚有不足。因此，本研究将致力于探讨ORMDL3基因单核苷酸多态性与儿童哮喘在中国人群中的相关性。 方法： 选取重庆医科大学附属儿童医院哮喘中心的哮喘儿童152例为病例组，同期健康体检儿童190例为对照组，，收集两组基本资料和病例组儿童哮喘临床特征资料。抽取所有研究对象的静脉血，并从中提取基因组DNA。在MassARRAY系统（Sequenom）中通过基质辅助激光解吸电离飞行时间质谱技术（MALDI-TOF-MS）的原理对ORMDL3基因标签单核苷酸多态性（SNP）的基因型和等位基因频率进行检测，并分析标签SNPs与儿童哮喘的相关性及其与儿童哮喘临床特征的相关性。 结果： 在所有检测的标签SNPs中，仅有SNP rs7216389的基因型频率在儿童哮喘组和对照组之间有统计学意义上的显著性差异（P=0.018），其中TT基因型在哮喘儿童组呈现较高的频率。且相对于对照组而言，哮喘儿童组SNP rs7216389的T等位基因频率也较高（P=0.04, OR=1.653,95%CI=1.170-2.333）。logistic回归分析也发现，SNP rs7216389的TT基因型为儿童哮喘发病的危险因素（P=0.016, OR=1.704,95%CI=1.105-2.628）。但SNP rs7216389的TT基因型与儿童哮喘临床表现特征间未见显著相关性。 结论： 1、在中国人群中，ORMDL3基因与儿童哮喘存在一定相关性。 2、ORMDL3基因的SNP rs7216389的多态性可以影响儿童哮喘的发病。 3、SNP rs7216389的TT基因型为儿童哮喘发病的危险因素。
[Abstract]:Objective: the whole genome association study based on single nucleotides polymorphism (SNP) shows that some polymorphism markers in and around ORMDL3 gene are associated with asthma in children, and this association has been confirmed in different ethnic groups, but the research on this association in Chinese population is still insufficient. Therefore, this study will focus on the relationship between ORMDL3 gene single nucleotide polymorphism and childhood asthma in Chinese population. Methods: 152 asthma children in Asthma Center of affiliated Children's Hospital of Chongqing Medical University were selected as case group and 190 healthy children as control group. The basic data of the two groups and the clinical characteristics of asthma in the case group were collected. The venous blood of all the subjects was taken and genomic DNA. was extracted from it. The genotypic and allelic frequencies of ORMDL3 gene label single nucleotides polymorphism (SNP) were detected by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS) in MassARRAY system (Sequenom), and the correlation between SNPs and asthma in children and its correlation with clinical characteristics of asthma in children were analyzed. Results: in all the tag SNPs, only the genotypic frequency of SNP rs7216389 was significantly different between the child asthma group and the control group (P 鈮
本文编号：2498065
[Abstract]:Objective: the whole genome association study based on single nucleotides polymorphism (SNP) shows that some polymorphism markers in and around ORMDL3 gene are associated with asthma in children, and this association has been confirmed in different ethnic groups, but the research on this association in Chinese population is still insufficient. Therefore, this study will focus on the relationship between ORMDL3 gene single nucleotide polymorphism and childhood asthma in Chinese population. Methods: 152 asthma children in Asthma Center of affiliated Children's Hospital of Chongqing Medical University were selected as case group and 190 healthy children as control group. The basic data of the two groups and the clinical characteristics of asthma in the case group were collected. The venous blood of all the subjects was taken and genomic DNA. was extracted from it. The genotypic and allelic frequencies of ORMDL3 gene label single nucleotides polymorphism (SNP) were detected by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS) in MassARRAY system (Sequenom), and the correlation between SNPs and asthma in children and its correlation with clinical characteristics of asthma in children were analyzed. Results: in all the tag SNPs, only the genotypic frequency of SNP rs7216389 was significantly different between the child asthma group and the control group (P 鈮
本文编号：2498065
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