Institute for Immunological Research, University of Cartagena, Cartagena, Colombia.
Int Arch Allergy Immunol. 2010;151(3):237-46. doi: 10.1159/000242361. Epub 2009 Sep 29.
The C-509T polymorphism of the transforming growth factor beta-1 (TGFB1) gene has been associated with asthma and asthma-related phenotypes, but its influence on total and specific IgE levels is controversial.
To investigate the association between C-509T and asthma, as well as total IgE and specific IgE against Blomia tropicalis and Dermatophagoides pteronyssinus, in a Colombian population.
The study population consisted of 417 asthmatics, 390 controls and 116 nuclear families. The C-509T polymorphism was genotyped using single-base extension minisequencing or Taq Man probes. IgE and TGFbeta1 levels were measured by ELISA. Regression analysis and family-based association tests were performed in cases/controls and families. Associations were corrected by population structure using a panel of 52 ancestry informative markers in the case-control dataset.
There was no association between C-509T and asthma. In asthmatics, the CC genotype was associated with higher total IgE levels compared with the other genotypes [mean IgE: 2.81 +/- 0.42 vs. 2.71 +/- 0.45 log IU/ml; p = 0.016, corrected p value (p(c)) = 0.019]. When only atopic asthmatics were included, the significance remained (p = 0.02, p(c) = 0.03). In the family-based analyses, the C allele was associated with higher total IgE levels (p = 0.02) and the CC genotype with specific IgE to D. pteronyssinus (p = 0.01).
C-509T is associated with total IgE levels and specific IgE to D. pteronyssinus in asthmatic patients. In contrast to other studies, we found the CC genotype to be associated with higher levels of total and specific IgE. Differences in the frequency of this allele among populations could alter its effects as a risk factor for asthma-associated phenotypes.
转化生长因子β-1（TGFB1）基因的 C-509T 多态性与哮喘和哮喘相关表型有关，但它对总 IgE 和特异性 IgE 的影响存在争议。
在哥伦比亚人群中，研究 C-509T 与哮喘以及总 IgE 和对 Blomia tropicalis 和 Dermatophagoides pteronyssinus 的特异性 IgE 之间的关系。
研究人群包括 417 例哮喘患者、390 例对照者和 116 个核心家系。使用单碱基延伸小测序或 Taq Man 探针对 C-509T 多态性进行基因分型。通过 ELISA 测量 IgE 和 TGFbeta1 水平。在病例/对照和家系中进行回归分析和基于家系的关联检验。在病例对照数据集中使用一组 52 个遗传标记物对群体结构进行校正。
C-509T 与哮喘无关。在哮喘患者中，与其他基因型相比，CC 基因型与总 IgE 水平升高相关[平均 IgE：2.81 +/- 0.42 与 2.71 +/- 0.45 log IU/ml；p = 0.016，校正后的 p 值（p(c)）= 0.019]。当仅包括过敏性哮喘患者时，其意义仍然存在（p = 0.02，p(c) = 0.03）。在家系分析中，C 等位基因与总 IgE 水平升高相关（p = 0.02），CC 基因型与对 D. pteronyssinus 的特异性 IgE 相关（p = 0.01）。
C-509T 与哮喘患者的总 IgE 水平和对 D. pteronyssinus 的特异性 IgE 相关。与其他研究不同，我们发现 CC 基因型与总 IgE 和特异性 IgE 水平升高相关。该等位基因在不同人群中的频率差异可能改变其作为哮喘相关表型的风险因素的作用。
