目的 探讨中国新疆地区维吾尔族慢性阻塞性肺疾病( 简称慢阻肺) 与解整连蛋白和金属蛋白33( ADAM33) 基因V4 及F+1 位点单核苷酸多态性的相关性。方法 采用限制性片段长度多态性方法分析初次确诊的维吾尔族慢阻肺患者100 例( 慢阻肺组) 与同期健康体检者140 例( 对照组) ADAM33 V4 和F +1 位点基因型, 对所有研究对象进行肺功能检查和慢阻肺流行病学调查, 对慢阻肺组患者病情进行慢阻肺综合评估。结果 初次就诊的维吾尔族慢阻肺患者经慢阻肺综合评估, A 组、B 组和C 组患者分别占22% 、35% 和30% 。慢阻肺组和对照组间ADAM33 基因V4 和F +1位点基因型构成比差异均无统计学意义( P 〉0. 05) , 两组ADAM33 基因V4 和F + 1 位点的3 种基因型患者FEV1% pred 和FEV1 /FVC 均值比较差异无统计学意义( P 〉 0. 05) 。慢阻肺组ADAM33 基因V4、F+1 位点不同基因型与慢阻肺综合评估之间无显著相关性( P 〉0. 05) 。SHEsis 在线软件对V4、F+1 位点进行单体型分析结果显示4 种单体型在慢阻肺组和对照组比较差异无统计学意义( P 〉0. 05) 。结论 初步就诊的维吾尔族慢阻肺患者中, 慢阻肺综合评估B 组及C 组比例较大。ADAM33基因V4、F+1 位点多态性与新疆维吾尔族慢阻肺不相关, 与肺功能及病情程度不相关, 不增加维吾尔族患者慢阻肺易感性。
Objective To investigate the association between polymorphism of V4, F + 1 in ADAM33 ( adisintegrin and metalloproteinase 33) gene and COPD in a northwestern Uighur population.Methods A total of 100 Uighur COPD patients and 140 healthy volunteers were recruited in the study.Genotypes were determined by restriction fragment lengthpolymorphism( PCR-RFLP) . All subjects had a epidemiological investigation including modified british medical research council( mMRC) , COPD assessment test ( CAT) , and pulmonary function test. The 100 Uighur COPD patients were assessed by revised GOLD2011. Results Assessed by revised GOLD2011, the patients of A, B and C grade accounted for 22% , 35% and 30% , respectively. There was no statistical significance in the distributions of the V4, F +1 alleles between the patients and the controls( P 〉0. 05) . There was no statistical significance between SNPs in ADAM33 ( V4 and F + 1) with the decreased lung function and the grade of COPD( P 〉 0. 05) .Conclusion There was no association between polymorphism of V4, F +1 in ADAM33 gene and COPD in a northwestern Uighur population.