支气管哮喘患者ADAM33基因S2位点多态性的研究

Association of polymorphism of s2 locus allele in ADAM33 gene with bronchial asthma

目的检测ADAM33基因S2位点多态性在支气管哮喘患者中的分布频率，探讨S2位点单核苷酸多态性与支气管哮喘的相关性。方法采用等位基因特异性聚合酶链反应（AS—PCR）技术及DNA测序的方法，对126例哮喘患者及121例健康人进行ADAM33基因S2位点单核苷酸多态性分析。结果ADAM33基因S2位点在哮喘组和对照组中基因型分布均符合Hardy—Weinburg平衡定律；ADAM33基因S2位点3种基因型（CC、CG、GG）在哮喘组分布为64例（50．8％）、45例（35．7％）、17例（13．5％），在对照组分布为72例（59．5％）、44例（36．4％）、5例（4．1％），两组比较有统计学差异（x^2=6．929，P〈0．05）。哮喘组与对照组C及G等位基因频率比较差异有显著性（x^2=5．122，P〈0．05）。结论ADAM33基因S2位点在支气管哮喘人群中存在CC、CG、GG多态性；ADAM33基因S2位点多态性与支气管哮喘有明显相关性。

Objective To investigate the association between the polymorphism of S2 locus allele in ADAM33 gene and bronchial asthma. Methods Allele-Specific Polymerase chain reaction （AS-PCR） and DNA sequencing were used to determine the polymorphism of S2 locus allele in ADAM33 gene in 126 unrelated patients with asthma and 121 unrelated healthy controls. Results The genotype distributions of S2 locus allele in ADAM33 gene in case group and control group did not deviate from Hardy-Weinburg equilibrium. The frequencies of the genotypes （ CC, CG, GG） were 50.8 % （ n = 64 ）, 35.7 % （ n = 45 ） and 13.5 % （ n = 17） in the 126 asthmatic patients and 59.5 % （ n = 72）, 36. 4 % （ n = 44） and 4.1% （ n = 5 ） in the 121 controls respectively showing a significant difference in the distribution of the genotypes （CC, CG, GG） between asthmatic patients and healthy controls（ x^2 = 6. 929,P 〈 0.05 ）. The frequencies of the alleles（C,G） were 0. 687 and 0. 313 in the asthmatic patients and 0. 777 and 0. 223 in the controls respectively showing also a significant difference in the allele frequency between them （x^2 = 5. 122, P 〈 0.05）. Conclusion The polymorphism of S2 locus allele in ADAM33 gene is associated with the susceptibility to asthma.