解整合素-金属蛋白酶33基因T1位点多态性与哮喘相关性研究

Association of T1 polymorphism in disintegrin and metalloprotease 33 gene with asthma

目的探讨解整合素-金属蛋白酶33(ADAM33)基因中的T1位点不同基因型及等位基因的分布频率,与支气管哮喘及血浆IgE水平的相关性。方法对122例陕西关中地区汉族哮喘儿童(哮喘组)及137例对照儿童(对照组)应用聚合酶链反应结合限制性片段长度多态性(PCR-RFLP)方法检测位点多态性;通过ELISA法检测血浆IgE水平。结果与对照组相比,哮喘组血浆总IgE水平显著上升(P<0.001)。在该地区儿童中只检测到T1位点的2种基因型(TT和CT),哮喘组2种基因型的分布频率分别为85.2%和14.8%,对照组分别为86.1%和13.9%,两组分布频率差异无统计学意义(χ2=0.041,P>0.05);哮喘组的T等位基因和C等位基因频率分别为92.6%、7.4%,对照组分别为93.1%、6.9%,两组分布差异也无统计学意义(χ2=0.038,P>0.05)。259例(包括对照组和哮喘组)样本和122例哮喘样本的血浆IgE水平在不同基因型均无差异。结论在陕西关中地区汉族儿童中,ADAM33基因T1位点基因多态性与哮喘不相关,也不影响血浆IgE水平。

Objective To obtain the distribution frequency of different genotypes and alleles of a disintegrin and metalloprotease 33（ADAM33）polymorphism T1 in children of Han ethnicity in Shaanxi Guanzhong district,and to analyze the association of polymorphism T1 with asthma and IgE level in plasma.Methods One hundred and twenty-two children with asthma and 137 healthy controls were screened for genotypes by PCR-RFLP.IgE level in plasma was detected by ELISA.Results IgE level in plasma of asthma group was significantly increased compared with that of control group（P 0.001）.The genotype frequencies of TT and CT at ADAM33 T1 locus were 85.2% and 14.8% in asthma group,while their genotype frequencies were 86.1% and 13.9% in control group.There was no difference between asthma group and control group（χ2 = 0.041,P 0.05）.The allele frequencies of T and C were 92.6% and 7.4% in asthma group,while their allele frequencies were 93.1% and 6.9% in control group.There was no significant difference between these two groups either（χ2 = 0.038,P 0.05）.The IgE level of those children with TT genotype did not show difference with that of total children.Conclusions The results suggest ADAM33 polymorphism T1 is not associated with asthma,and is not related with plasma IgE level in children of Han ethnicity in Shaanxi Guanzhong district.