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目的探讨ADAM33基因的Q-1、T2位点单核苷酸多态性(SNP)与新疆维吾尔族人群慢性阻塞性肺疾病(COPD)发病的相关性。方法对107例新疆维吾尔族COPD患者和140例新疆维吾尔族健康体检者,采用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)分析ADAM33基因Q-1位点和T2位点的基因表达多态性。结果 (1)与对照组比较,COPD组T2位点基因型分布和等位基因频率分布差异有统计学意义(均P<0.05)。相对于GG基因型,AG+AA基因型能够降低COPD发生的风险〔OR(95%CI):0.536(0.293~0.983)〕。(2)单体型H4(GG)、单倍体H3(GA)和COPD存在相关性(均P<0.05)。(3)在COPD组T2位点GG基因型、AG+AA基因型的第一秒用力呼气容积占用力肺活量的百分比(FEV1/FVC)、第一秒用力呼气容积占预计值的百分比(FEV1占预计值)差异无统计学意义(均P>0.05)。结论在新疆维吾尔族人群中,ADAM33基因T2位点基因多态性可能与COPD发病相关。
Objective To investigate the association between ADAM33 gene Q-1, T2 SNP and the incidence of chronic obstructive pulmonary disease (COPD) in Xinjiang Uygur population. Methods 107 cases of Uygur COPD in Xinjiang and 140 cases of Uygur healthy subjects in Xinjiang were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of ADAM33 gene Q-1 and T2 sites Gene polymorphism. Results (1) Compared with the control group, genotype distribution and allele frequency distribution of T2 in COPD group were significantly different (all P <0.05). The AG + AA genotype reduced the risk of COPD (OR 95% CI: 0.536 (0.293-0.983)] relative to the GG genotype. (2) The haplotype H4 (GG), haploid H3 (GA) and COPD were correlated (all P <0.05). (3) Percentage of first-quarter forced expiratory volume occupancy capacity (FEV1 / FVC), first-second forced expiratory volume of GG genotype and AG + AA genotype in COPD group T2 (% FEV1 accounted for the expected value) was no significant difference (all P> 0.05). Conclusion In Xinjiang Uygur population, polymorphism of ADAM33 gene T2 locus may be related to the pathogenesis of COPD.