【摘要】：目的： 基于單核苷酸多態(tài)性（SNP）的全基因組關(guān)聯(lián)性研究顯示ORMDL3基因內(nèi)以及周圍的一些多態(tài)性標(biāo)記與兒童哮喘相關(guān)，且這種相關(guān)性已在不同種族人群中得到證實(shí)，但該相關(guān)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(tài)性與兒童哮喘在中國人群中的相關(guān)性。 方法： 選取重慶醫(yī)科大學(xué)附屬兒童醫(yī)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(tǒng)（Sequenom）中通過基質(zhì)輔助激光解吸電離飛行時(shí)間質(zhì)譜技術(shù)（MALDI-TOF-MS）的原理對ORMDL3基因標(biāo)簽單核苷酸多態(tài)性（SNP）的基因型和等位基因頻率進(jìn)行檢測，并分析標(biāo)簽SNPs與兒童哮喘的相關(guān)性及其與兒童哮喘臨床特征的相關(guān)性。 結(jié)果： 在所有檢測的標(biāo)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(tǒng)計(jì)學(xué)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(xiàn)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(fā)現(xiàn)，SNP rs7216389的TT基因型為兒童哮喘發(fā)病的危險(xiǎn)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(xiàn)特征間未見顯著相關(guān)性。 結(jié)論： 1、在中國人群中，ORMDL3基因與兒童哮喘存在一定相關(guān)性。 2、ORMDL3基因的SNP rs7216389的多態(tài)性可以影響兒童哮喘的發(fā)病。 3、SNP rs7216389的TT基因型為兒童哮喘發(fā)病的危險(xiǎn)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