【摘要】：目的： 基于單核苷酸多態性（SNP）的全基因組關聯性研究顯示ORMDL3基因內以及周圍的一些多態性標記與兒童哮喘相關，且這種相關性已在不同種族人群中得到證實，但該相關性在中國人群中的研究尚有不足。因此，本研究將致力于探討ORMDL3基因單核苷酸多態性與兒童哮喘在中國人群中的相關性。 方法： 選取重慶醫科大學附屬兒童醫院哮喘中心的哮喘兒童152例為病例組，同期健康體檢兒童190例為對照組，，收集兩組基本資料和病例組兒童哮喘臨床特征資料。抽取所有研究對象的靜脈血，并從中提取基因組DNA。在MassARRAY系統（Sequenom）中通過基質輔助激光解吸電離飛行時間質譜技術（MALDI-TOF-MS）的原理對ORMDL3基因標簽單核苷酸多態性（SNP）的基因型和等位基因頻率進行檢測，并分析標簽SNPs與兒童哮喘的相關性及其與兒童哮喘臨床特征的相關性。 結果： 在所有檢測的標簽SNPs中，僅有SNP rs7216389的基因型頻率在兒童哮喘組和對照組之間有統計學意義上的顯著性差異（P=0.018），其中TT基因型在哮喘兒童組呈現較高的頻率。且相對于對照組而言，哮喘兒童組SNP rs7216389的T等位基因頻率也較高（P=0.04, OR=1.653,95%CI=1.170-2.333）。logistic回歸分析也發現，SNP rs7216389的TT基因型為兒童哮喘發病的危險因素（P=0.016, OR=1.704,95%CI=1.105-2.628）。但SNP rs7216389的TT基因型與兒童哮喘臨床表現特征間未見顯著相關性。 結論： 1、在中國人群中，ORMDL3基因與兒童哮喘存在一定相關性。 2、ORMDL3基因的SNP rs7216389的多態性可以影響兒童哮喘的發病。 3、SNP rs7216389的TT基因型為兒童哮喘發病的危險因素。
[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

本文編號：2498065