陕西关中地区汉族支气管哮喘患儿解整合素-金属蛋白酶33基因S2位点的多态性

Polymorphism of A Disintegrin and Metalloprotease 33 Gene S2 of Han Children with Asthma in Shanxi Guanzhong

目的研究陕西关中地区汉族儿童解整合素-金属蛋白酶33(ADAM33)基因S2位点不同基因型及等位基因的分布频率,探讨其与支气管哮喘(哮喘)及血浆IgE水平的相关性。方法研究对象为123例陕西关中地区汉族哮喘儿童(哮喘组)及136例健康儿童(健康对照组),采用ELISA法检测其血浆IgE水平,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测位点多态性,PCR产物长度458 bp,使用的限制性内切酶为BspT107I。电泳分离后CC基因型为1个片段(458 bp),CG基因型为3个片段(135 bp,324 bp和458 bp),GG基因型为2个片段(135 bp和324 bp)。结果 1.与健康对照组比较,哮喘组血浆总IgE水平显著升高(P<0.001)。2.ADAM33基因S2位点的3种基因型(CC、CG和GG)在哮喘组分布频率分别为63.4%、30.1%和6.5%,在健康对照组分布频率分别为64.7%、34.6%和0.7%,2组分布频率比较差异有统计学意义(χ2=6.601,P=0.037);但等位基因频率2组间比较差异无统计学意义。3.与ADAM33基因S2位点CC基因型比较,GG基因型可显著增加哮喘发生的危险性(OR=9.026,P=0.0169),而CG基因型与CC基因型比较差异无统计学意义;2种等位基因对哮喘的相对危险度比较差异无统计学意义。结论在陕西关中地区汉族儿童中,ADAM33基因S2位点基因多态性与哮喘相关,且GG基因型罹患哮喘的风险升高。CC、CG及GG基因型对血浆IgE水平无显著影响。

Objective To obtain the distribution frequency of different genotypes and alleles of a disintegrin and metalloprotease 33（ADAM33） gene polymorphism S2 in Shanxi Guanzhong Han children,and analyze the association of polymorphism S2 with asthma and IgE level in plasma.Methods One hundred and twenty-three children with asthma（asthma group） and 136 healthy controls（healthy control group）were screened for genotype by polymerase chain reaction-restricted fragment length polymorphisms（PCR-RFLP）.BspT107I was adopted to treat PCR product with the length 458 bp,and the electrophoresis was used to separate DNA fragments.A 458 bp fragment represented CC genotype,3 fragments（135 bp,324 bp and 458 bp） represented CG genotype,and 2 fragments（135 bp and 324 bp） represented GG genotype.IgE level in plasma was detected by enzyme linked immunosorbent assay（ELISA）.Results 1.IgE level in plasma of asthma group was significantly higher than that in healthy control group（P0.001）.2.The frequency of CC,CG and GG,3 genotypes of ADAM33 gene polymorphism S2,were 63.4%,30.1% and 6.5% in asthma group,and were 64.7%,34.6% and 0.7% in healthy control group.It had a significant difference between asthma group and healthy control group（χ2=6.601,P=0.037）,but there was no difference between the allele frequency of 2 groups.3.The GG genotype was associated with increased asthma susceptibility compared with CC genotype（OR=9.026,P=0.016 9）.However,CG and CC genotypes had no significant difference in asthma susceptibility,and there was no difference between 2 alleles in relative risk of asthma.Conclusions The results suggest ADAM33 gene polymorphism S2 associates with asthma,and the risk of suffering asthma increases in Shanxi Guanzhong Han children with GG genotype.But IgE level in plasma is not affected by CC,CG and GG genotype.