摘要
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.
出处
《国际呼吸杂志》
CAS
2012年第1期1-5,共5页
International Journal of Respiration
基金
山东省自然基金课题(Y2006C74)
关键词
ADAM33
基因多态性
相关性
哮喘
ADAM33
Single nucleotide Polymorphism
Association
Asthma