去整合素基质金属蛋白酶19基因多态性与慢性阻塞性肺疾病易感性的研究

Study of the association between a disintegrin and metalloprotease 19 gene polymorphisms and chronic obstructive pulmonary disease susceptibility

目的探讨去整合素基质金属蛋白酶19（ADAM19）基因多态性与慢性阻塞性肺疾病（COPD）易感性的关系。方法收集116例COPD患者（COPD组）和82例健康者（对照组）外周血，提取全血细胞DNA，采用聚合酶链式反应-限制性片段长度多态性法检测ADAM19（rs1422795）位点基因多态性，对等位基因及基因型分布进行统计学分析。结果COPD组中ADAM19的AA、AG、GG基因型频率分别为73．3％、22．4％、4．3％，与对照组68．3％、28．0％、3．7％相比差异无统计学意义（X^2=0．887，P=0．634）；COPD组中A、G等位基因频率分别为84．5％、15．5％，与对照组82．3％、17．7％相比差异无统计学意义（X^2=0．582，P=0．446）。ADAM19基因型分布在对照组和不同严重程度COPD患者中差异无统计学意义（X^2=3．325，P=0．787）。结论ADAM19（rs1422795）位点基因多态性与COPD无明显相关，ADAM19（rs1422795）可能不是COPD的易感基因。

Objective To explore the association between genetic polymorphism of a disintegrin and metalloprotease 19 （ADAM19） and chronic obstructive pulmonary disease （COPD）. Methods Totally 116 patients with COPD （the COPD group） and 82 healthy volunteers （the control group） were enrolled in this study. Fasting peripheral blood was taken and whole blood corpuscle genomic DNA was extracted. The genetic polymorphism of ADAM19 （rs1422795） was determined by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）. Results The difference in genotypes frequencies （GG, AG, AA） distribution of the ADAM19 between patients （73.3%, 22.4%, and 4.3%） and controls （68.3%, 28.0%, and 3.7%） showed no statistically significance （X2 =0. 887,P= 0. 634）. There were also no significant differences in the distribution of the different allele gene frequencies（A, G） between patients （84.5%, 15.5%） and controls（82.3%, 17.7%）（X2= 0. 582, P = 0. 446）. No differences were found in the distribution of the genotypes between patients of different COPD severity classified according to FEV1 （% pred）, and healthy controls（x2 =3. 325,P=0. 787）. Conclusions ADAM19 （rs1422795） genetic polymorphism is not related to the development of COPD,which may not be the COPD-related gene.