解整合素-金属蛋白酶33基因位点多态性与慢性阻塞性肺疾病的相关性研究

目的探讨解整合素-金属蛋白酶33（ADAM33）基因BC＋1及F＋1位点多态性与山西地区汉族人群慢性阻塞性肺疾病（COPD）的关系。方法采用聚合酶链式反应（PCR）、DNA测序及序列对比的方法对103例COPD患者（COPD组）和100例健康者（对照组）ADAM33基因的BC＋1及F＋1位点进行多态性分析。结果ADAM33基因BC＋1位点3种基因型AA、AG、GG基因型频率在COPD组中分别为15.5%、45.6%和38.8%,在对照组中分别为17.0%、56.0%和27.0%,两组基因构成比比较,差异无统计学意义（χ2=3.296,P〉0.05）,A和G等位基因型的频率在COPD组中分别为38.3%和61.7%,在对照组分别为45.0%和55.0%,两组比较差异无统计学意义（χ2=1.847,P〉0.05）。F＋1位点3种基因型AA、AG、GG基因型频率在COPD组中分别为20.4%、38.8%和40.8%,在对照组中分别为7.0%、51.0%和42.0%,两组构成比比较差异有统计学意义（χ2=8.287,P〈0.05）,A和G等位基因型的频率在COPD组中分别为39.8%和60.2%,在对照组分别为32.5%和67.5%,两组比较差异无统计学意义（χ2=2.345,P〉0.05）。BC＋1位点未发现有增加患COPD的风险（OR=0.760,P〉0.05）,但F＋1位点可能有增加患COPD的风险（OR=1.357,P〈0.05）。结论 ADAM33基因F＋1位点多态性对山西地区汉族人群COPD发病有一定相关性;但BC＋1位点多态性对该人群COPD发病的影响不明显。

Association of polymorphism of ADAM33 gene and chronic obstructive pulmonary disease

Objective To explore the association of polymorphisms of BC＋1 and F＋1 locus allele in ADAM33 gene and chronic obstructive pulmonary disease（COPD） in the Chinese Han population from Shanxi Province.Methods The polymerase chain reaction（PCR）,gene sequencing and sequence flanking were used to detect the polymorphism of BC＋1 and F＋1 locus allele in ADAM33 gene,involved in 103 COPD subjects（COPD group） and 100 healthy controls（control group）.Results The frequencies of genotypes AA,AG and GG at polymorphism sites BC＋1 were 15.5%,45.6% and 38.8%,respectively in COPD group,while 17.0%,56.0% and 27.0% in control group.Besides,A and G type allele frequencies were 38.4% and 61.7% in COPD group,while 45.0% and 55.0% in control group.There was no significant difference between genotype frequencies（χ2 = 3.295,P〉 0.05） or allele frequencies（χ2 = 1.847,P〉 0.05）.Additionally,the frequencies of genotypes AA,AG and GG at polymorphism sites F＋1 were 20.4%,38.8%and 40.8%,respectively in COPD group,while 7.0%,51.0% and 42.0% in control group,there was a significant difference（χ2 = 8.287,P〉0.05）.Besides,A and G type allele frequencies were 39.8% and 60.2% in COPD group,while 32.5% and 67.5% in control group,there was no significant difference（χ2 = 1.847,P〉0.05）.The F＋1 locus allele could increase the relative risk（OR = 1.357,P〉0.05）,but the BC＋1 could not（OR = 0.760,P〉0.05）.Conclusion The polymorphism of F＋1 locus allele in ADAM33 gene has association with the susceptibility to COPD in Chinese Han population from Shanxi Province,but the polymorphism of BC＋1 locus allele in ADAM33 gene has no effect.