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—SpecificPolymerasechainreaction，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（X^2=1．638，P=0．441〉0．05；X^2=1．050，P=0．592〉0．05；X^2=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（X^2=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y。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 （ x2 = 6. 929, P 〈0.05）. No significant differences were found with asthma severity （ X2 =0. 335, P =0. 855〉0.05） 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.