【摘要】 目的探讨中国北方汉族人人类β-防御素-1(humanβ-defensin-1,hBD-1)基因多态性与慢性阻塞性肺疾病(COPD)易感性的关系。方法应用聚合酶链反应限制性片段长度多态性法(PCR-RFLP)检测hBD-1基因外显子2(exon2 Val38Ile)基因型在84例中国北方汉族人COPD患者和90例健康对照者中的分布特点。结果 hBd-1基因exon2 Ile38等位基因在COPD及健康对照组中突变频率分别为14.28%、5.00%,2组比较差异有统计学意义(P=0.017)。结论 hBD-1 exon2 Val38Ile基因多态性是中国汉族人群COPD发病的危险因素(OR=2.776),hBd-1 exon 2基因Ile38突变与吸烟对COPD的发生存在正协同作用。更多还原

【Abstract】 Objective To investigate the polymorphism in gene for human β-defensin-1(hBd-1) in relation to the susceptibility to the development of chronic obstructive pulmonary disease(COPD) in Han nationality in northern China.Methods The genotypes of 84 patients with COPD and 90 healthy control subjects were tested with polymerase chain reaction(PCR) and restriction fragment length polymorphism(RFLP) for hBD-1 exon2 Ile38.Results The hBD-1 exon2 Ile38 variant frequencies were significantly different between the groups: 14.28% in COPD and 5% in control subjects(P=0.017).The hBD-1 exon 2(Val38Ile) polymorphism and cigarette smoking played an interactive role in the development of COPD.Conclusion The genetic polymorphism in hBD-1 exon 2(Val38Ile) is a risk factor for the pathogenesis of COPD in Han nationality of China and the mutation of hBd-1 exon 2 Ile38 and cigarette smoking have synergistic effect on the pathogenesis of COPD.更多还原