ADAM33基因多态性与支气管哮喘易感性的研究

Study on relationship between genetic polymorphisms of ADAM33 and susceptibility to bronchial asthma

目的检测ADAM33基因位点多态性在支气管哮喘(简称哮喘)患者中的分布频率,探讨ADAM33单核苷酸多态性与哮喘的相关性。方法采用等位基因特异性聚合酶链反应(Allele-Specific Polymerase chain reaction,AS-PCR)技术及DNA测序的方法,对126例哮喘患者及121名健康人进行ADAM33基因F+1、S2、T2和V4位点单核苷酸多态性分析。结果 ADAM33基因位点病例组和对照组中基因型分布均符合Hardy-Weinburg平衡定律;哮喘组与对照组F+1、T2和V4位点基因型比较差异无统计学意义(χ2=1.638,P=0.441>0.05;χ2=1.050,P=0.592>0.05;χ2=0.310,P=0.856>0.05)。哮喘组与对照组S2位点基因型及等位基因频率差异均具有统计学意义(χ2=6.929,P<0.05)。根据病情严重程度把哮喘患者分为轻、中、重3组,经非参数检验分析,S2位点χ2值为0.335,P=0.855>0.05,S2位点多态性与哮喘病情严重度差异无统计学意义。方差分析计算基因型构成和肺功能指标FEV1实/预、FVC实/预和FEV1/FVC的关联,S2位点的P值分别为0.255、0.143、0.404,均>0.05,S2位点多态性与肺功能指标无显著相关性。结论 ADAM33基因位点在哮喘人群中存在多态性;ADAM33基因S2位点基因多态性与哮喘明显相关,与哮喘患者病情严重程度和肺功能没有显著关联。

Objective The aim of this study was to evaluate the potential relationship between polymorphisms of ADAM33 and bronchial asthma （asthma）.Methods A case-control study was conducted. A total of 126 asthma patients and a control group of 121 healthy volunteers were recruited for this study. Four polymorphic sites （F＋1, S2, T2, and V4） were selected for genotyping. Genotypes were determined by the Allele-Specific Polymerase chain reaction （AS-PCR） with Fluorescence Melting Curves and DNA sequencing method.Results Statistically significant difference in the distributions of the S2 site between patients and controls was observed （χ2=6.929,P0.05）.No significant differences were found with asthma severity （χ2=0.335,P=0.8550.05） and lung function.Conclusions These preliminary results suggest an association between ADAM33 polymorphisms S2 C/G and asthma. The SNP （F＋1 C/T, T2 G/A, and V4 C/G） of the ADAM33 gene may be the causal variants in asthma disease, but the strength of this evidence is limited by our small sample size.