转化生长因子β_1基因多态性与儿童哮喘易感性研究  

Study on TGFβ_1 polymorphism and asthma susceptibility

作　　者：鲁继荣[1] 刘文东[1] 赵凯姝[1] 孙明远[1] 付文永[1] 

机构地区：[1]吉林大学第一医院儿科,吉林长春130021

出　　处：《临床儿科杂志》2004年第4期212-215,共4页Journal of Clinical Pediatrics

摘　　要：目的探讨转化生长因子β1(TGFβ1)基因多态性与儿童哮喘的关系。方法应用聚合酶链反应 -限制性片段长度多态性 (PCR_RFLP)技术对98例哮喘患儿与52例正常儿童进行TGFβ1 基因5′-侧翼区 -509C/T多态性分析 ,并采用双抗体夹心ELISA法检测血清总IgE水平。结果哮喘组基因型分布和等位基因频率与对照组相比 ,差异均无显著性 (P>0.05) ;重度哮喘组基因型分布和等位基因频率与轻度组或对照组相比 ,差异有显著性(P<0.05) ;基因型为TT型的哮喘患儿血清总IgE水平明显高于CC型或CT型 ,差异具有显著性 (P<0.05)。结论TGFβ1 基因 -509C/T突变不是儿童哮喘的高发因素 ,但它可能是重度哮喘的候选基因 ,且突变纯合型与血清总IgE水平升高有关。Objective To investigate the association of TGFβ 1 gene polymorphism with asthma in children.Methods Ninety-eight asthmatic children and fifty-two normal children were studied.Among the98cases,62had mild asthma(including38boys and24girls).Age ranged from1～14years,with the average age of6.2years.The age of36severe cases(including20boys and16girls)ranged from2～13years,with the average age of6.8years while the age in52normal controls(including32boys and20girls)ranged from2～13years,with average age of6.4years.The TGFβ 1 gene-509C/T polymorphism in the5'-flanking region was detected with the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)technique.The total serum IgE level was examined with sandwich ELISA methods.Results There were three genotypes(CC,CT,TT)of the TGFβ 1 gene-509in asthmatic and normal children.The T allele freˉquencies in asthmatic and normal children were28.3%and13.6%,respectively,with no significant differˉence,suggesting that the presence of the T allele was not associated with the risk of asthma.There were a greater proportion of individuals with the TT genotype in the severe group in comparison with the mild asthmatic and control groups.A significant difference was found for this variant between the severe and mild asthmatics groups(χ 2 =6.890,P=0.032).Also,such difference could be found between the severe asthmatic and control groups(χ 2 =9.466,P=0.0009).With no significant difference between the mild and control groups(χ 2 =0.597,P=0.742),suggesting that TGFβ 1 polymorphism were not associated with the severity of asthma.The serum IgE levels in asthmatic individuals with the TT genotype were higher than those of the CC or CT genotypes.With significant differences between TT and CC genotypes(t=6.2,P<0.05)and between TT and CT genotypes(t=4.3,P<0.05),but there was no significant difference between CC and CT genotypes(t=2.0,P>0.05).Conclusions This study indicated that the TGFβ 1 -509C/T gene mutation was closely associated with the asthma severity

关 键 词：转化生长因子Β1 基因多态性 儿童 哮喘 易感性 聚合酶链反应-限制性片段长度多态性 

分 类 号：R725.6[医药卫生—儿科]