摘要目的 目的:探讨 ADAM1 9 基因多态性与汉族哮喘合并慢阻肺( overlap syn-drome of asthma and COPD , ACOS )易感性之间的关系.方法 选取 2 0 1 6 年 1 0 月- 2 0 1 8 年 1 0月于哈尔滨医科大学附属第二医院确诊为 ACOS 的汉族患者 2 9 6 例(病例组)及健康志愿者2 7 2 例(对照组) .测定研究对象的 FEv1 % 及 FEv1 /FvC .运用 SNPs 质谱分析技术检测ADAM19 基因 rs1422795 和 rs10404 位点多态性.结果 病例组与对照组 ADAM19 基因rs1422795 位点基因型、等位基因分布比较,差异有统计学意义( P <0. 05),rs10404 位点基因型、等位基因分布比较差异无统计学意义( P >0. 05).病例组 ADAM19 基因 rs1422795 位点不同基因型患者 FEv1 %及 FEv1 /FvC 比较差异有统计学意义( P <0. 05). rs1422795 位点基因型 TT 及等位基因 T 是发生 ACOS 的影响因素(OR =2. 011,95% CI[1. 400 ~2. 889] ,P<0. 05 ).结论 ADAM19 基因 rs10404 可能不是汉族人群 ACOS 患病的易感因素,而rs1422795 位点多态性可能与汉族人群 ACOS 的发生有相关性.

abstractsObjective Objective : To detect the association of single nucleotide polymorphism of ADAM1 9 gene with the overlap syndrome of asthma and COPD ( ACOS ) susceptibility in Chinese Han population . Methods From October 2 0 1 6 to October 2 0 1 8 , we enrolled 2 9 6 patients who were diag-nosed with ACOS ( case group ) and 2 7 2 healthy volunteers ( control group ) from the Second Affiliated Hospital of Harbin Medical University . Pulmonary function parameters including FEv1 % , FvC , and FEv1 /FvC were measured in every subject . The Mass spectrometry analysis technique for SNP genotyping was used to detect the polymorphisms of rs1 4 2 2 7 9 5 and rs1 0 4 0 4 loci of ADAM1 9 gene in peripheral ve-nous blood cells . Results There were significant differences in genotype and allele distribution in rs1 4 2 2 7 9 5 locus of ADAM1 9 gene between the case and control group ( P <0 . 0 5 ) , but no differences in the rs1 0 4 0 4 locus ( P >0 . 0 5 ) . In the case group , there were also significant differences in FEv1 % and FEv1 /FvC among patients with different genotypes of ADAM1 9 rs1 4 2 2 7 9 5 locus ( P <0 . 0 5 ) , but not with ADAM1 9 rs1 0 4 0 4 locus ( P >0 . 0 5 ) . The genotype TT and allele T of rs1 4 2 2 7 9 5 were risk factors for ACOS ( OR =2 . 0 1 1 , 9 5 % CI [ 1 . 4 0 0 ~2 . 8 8 9 ] , P <0 . 0 5 ) . Conclusion Rs1 0 4 0 4 of ADAM1 9 gene may not be a susceptible factor for ACOS in Chinese Han population , but rs1 4 2 2 7 9 5 polymorphism may be related to the occurrence of ACOS in Chinese Han population .