天津医药

• 论著 •    

血栓素A2受体基因多态性与哮喘遗传易感性的相关性研究

王雪艳1,张宏艳2,刘长山1,韩忠1   

  1. 1. 天津医科大学第二医院儿科
    2. 天津市儿童医院
  • 收稿日期:2009-11-09 修回日期:2010-03-29 出版日期:2010-08-15 发布日期:2010-08-15
  • 通讯作者: 王雪艳

The correlation between thromboxane A2 receptor gene polymorphism and susceptibility of asthma

  • Received:2009-11-09 Revised:2010-03-29 Published:2010-08-15 Online:2010-08-15

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摘要： 【摘要】 目的 研究血栓素A2受体（TBXA2R）基因T924C多态性与儿童哮喘易感性的关系，探讨其与哮喘患儿肺功能改变及血清特异性IgE的相关性。方法 研究对象为2008年5月-2008年12月在天津医科大学第二医院儿科就诊的哮喘急性发作患儿125例，同期健康儿童49例。采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)的方法对血栓素A2受体基因T924C进行多态性分析,用Mediwiss敏筛定量过敏原检测系统检测哮喘组的血清特异性IgE（sIgE）,≥5岁哮喘患儿进行肺功能检测。结果 哮喘组TBXA2R基因924位点TT、TC、CC三种基因型的分布频数分别为67、52、6，对照组为38、7、4，两组比较差别有统计学意义。哮喘组T等位基因频率为186/250（74.4%），C等位基因频率为64/250（25.6%）；对照组T等位基因频率为83/98（84.69%），C等位基因频率为15/98（15.31%），哮喘组C等位基因频率明显高于对照组，差别有统计学意义。相对于TT基因型而言，TC杂合型OR值(95%Cl)为4.213(1.741-10.196), p值为0.001。将哮喘组分为≥3岁组和＜3岁组，两组之间进行基因型及等位基因频率的比较，差别无统计学意义。对于基因型为TT和TC+CC的两组哮喘病例，比较其肺功能各项指标（FVC%、FEV1%、PEF%）的差异，均无统计学意义。对于常见过敏原（屋尘、户尘螨、霉菌类、猫毛、狗毛）过敏组和相应的非过敏组分别进行基因型（TT,TC+CC）和等位基因频率比较，p值均大于0.05，无统计学意义。结论 TBXA2R基因924位点多态性与儿童哮喘的发生有明显的相关性，C等位基因可能是儿童哮喘的易感基因，TC杂合型能显著增加哮喘发生的危险性。不同年龄组之间基因型分布无差别。TBXA2R基因924位点多态性与哮喘患儿的肺功能改变、血清特异性IgE无相关性。

关键词: 哮喘, 儿童, 血栓素A2受体, 基因多态性, 肺功能, 血清特异性IgE

Abstract: 【Abstract】Objective To determine whether the thromboxane A2 receptor gene T924C polymorphism is associated with the hereditary susceptibility of children asthma as well as the change in lung function and serum specific IgE . Methods This study recruited 125 asthmatic children who were suffering from acute episode and 49 healthy children as control group. Polymerase chain reactions- Restriction fragment length polymorphism (PCR-RELP) techniques were used to detect the TBXA2R SNP. In asthmatic group, serum concentrations of specific IgE antibodies were measured by Allergyscreen. All asthmatic patients who were more than five years old underwent spirometric assessment. Results The distribution frequencies of genotypes (TT,TC,CC) in asthmatic patients were 67,52,6, and the corresponding figures in controls were 38,7,4, there is significant difference between two groups. The frequencies for wild-type(T) and mutant alleles (C) in T924C in our asthmatic patients were 0.744 and 0.256 respectively, and the corresponding figures in controls were 0.8469 and 0.1531. The C alleles frequencies in asthmatic patients are obviously higher than in controls, the difference is significant. The heterozygous genotype(TC) can significantly increase the risk of developing asthma, the OR value (95%CI) is 4.213 (1.741-10.196), p =0.001. The asthmatic patients were divided in two groups (≥3 years of age and＜3 years of age),Compare the genotypes and alleles frequencies in two grups , there is no significant difference. Compare the different items of lung function between TT group and TC+CC group using t-test, there is no statistically significance. Compare the genotypes(TT,TC+CC) distribution and alleles frequencies between sensitization to universal allergens(house dust、house dust mites 、fungi、cat、dog )and no sensitization to them , the p values are all more than 0.05, there is no statistically significance. Conclusion TBXA2R gene T924C polymorphism is associated with the increased genetic susceptibility of developing asthma,the C allele may be susceptibility gene for asthma.The distribution of genotypes doesn’t change with age. The heterozygous genotype (TC) can increase the risk of developing asthma. There is no association between TBXA2R T924C polymorphism and change in lung function or serum sIgE in asthmatic children.

Key words: asthma, children, thromboxane A2 receptor, gene polymorphism, lung function, serum specific IgE