慢性阻塞性肺疾病患者ADAM33基因单核苷酸多态性的研究  

Association between ADAM33 gene polymorphism and COPD

作　　者：迟翔宇[1] 肖伟[2] 王建平[1] 姜洪娟[1] 王来城[1] 王静[1] 

机构地区：[1]山东大学附属省立医院,济南250021 [2]山东大学齐鲁医院

出　　处：《山东医药》2011年第49期1-3,共3页Shandong Medical Journal

基　　金：山东省卫生厅资助项目(2007BZ02)

摘　　要：目的检测ADAM33基因S2位点多态性在慢性阻塞性肺疾病(COPD)患者中的分布频率,探讨S2位点单核苷酸多态性与COPD的相关性,寻找COPD发病的易感基因,为COPD高危人群的筛选、早期预防和临床治疗提供理论依据。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112例COPD患者(COPD组)及105例健康人(对照组)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COPD组和对照组中基因型分布均符合Hardy-Weinberg平衡定律;ADAM33基因S2位点3种基因型CC、CG、GG在COPD组的分布为54.5%、34.8%、10.7%,在对照组的分布为69.5%、26.7%、3.8%,两组比较P均<0.05。COPD组ADAM33基因S2位点等位基因C和G的频率分别为0.719、0.281;对照组ADAM33基因S2位点等位基因C和G频率分别为0.829、0.171。COPD组与对照组C及G等位基因频率比较P均<0.05。结论 ADAM33基因S2位点存在CC、CG、GG多态性;ADAM33基因S2位点多态性与COPD有明显相关性。Objective To investigate the association between the polymorphism of S2 locus allele in ADAM33 gene and COPD. 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 112 patients with COPD and 105 healthy controls. Results The genotype distributions of S2 locus allele in ADAM33 gene in case group and control group did not deviate from Hardy-Weinberg equilibrium. The frequencies of the genotypes （CC, CG, GG） were 54.5% , 34.8% and 10.7% ; in the 112 COPD patients and 69.5 % , 26.7% and 3.8 % in the 105 controls, respectively, showing a significant difference in the distribution of the genotypes （CC,CG,GG） between COPD patients and healthy controls （X2 = 6. 662, P 〈 0.05）. The frequencies of the alleles （ C ,G） were 0. 719 and 0. 281 in the COPD patients and 0. 829 and 0. 171 in the controls, respectively, also showing a significant difference in the allele frequency between them （X2 = 7. 424, P 〈 0.05 ）. Conclusion The polymorphism of S2 locus allele in ADAM33 gene is associated with the susceptibility to COPD.

关 键 词：肺疾病 慢性阻塞性 ADAM33 多态性 单核苷酸 聚合酶链反应 

分 类 号：R562.2[医药卫生—呼吸系统]