俄罗斯过敏性支气管哮喘患者中Th2相关基因的多态性
2012/07/05
摘要
背景：支气管哮喘为一种慢性呼吸道疾病，表现为气道炎症、气道高反应性和周期性、可逆性气道梗阻。Th2亚型细胞因子在支气管哮喘患者的过敏性气道炎症中起到了重要作用。
目的：研究IL4RA基因的Ile75Val和Gln576Arg多态性、IL4基因的-33C>T多态性和FCER1B基因的Gly237Glu多态性是否与俄罗斯莫斯科患者过敏性支气管哮喘的发展和严重程度相关。
方法：对224名过敏性支气管哮喘患者和172名健康个体的DNA样本进行研究。通过引物延伸进行基因分型，随后进行基质辅助激光解吸/电离飞行时间质谱分析。
结果：结果显示，Gln576Arg的Arg/Arg基因型与哮喘保护相关（OR：0.16; P <0.012），T等位基因及-33C>的TT基因型与过敏性支气管哮喘相关（OR分别为1.91和 4.65，P <0.0001）。C等位基因携带者其哮喘风险下降（OR, 0.53; P <0.0001)。此外，与CC基因型和CT基因型相比，-33C>T的TT基因型与血清免疫球蛋白E和白介素-4含量较高相关。
结论：过敏性支气管哮喘与IL4RA基因的Gln576Arg多态性和IL4基因的-33C>T多态性相关。IL4RA和IL4参与了哮喘的致病。
（林江涛 审校）
J Investig Allergol Clin Immunol. 2012;22(2):126-32.
J Investig Allergol Clin Immunol. 2012;22(2):126-32.
Source
Laboratory of Chemical Genomics, Department for Proteomic Research, Research Institute of Biomedical Chemistry RAMS, Moscow, Russian Federation.
Laboratory of Chemical Genomics, Department for Proteomic Research, Research Institute of Biomedical Chemistry RAMS, Moscow, Russian Federation.
Abstract
BACKGROUND:Bronchial asthma is a chronic respiratory disorder characterized by airway inflammation, airway hyperresponsiveness, and periodic reversible airway obstruction. Subtype 2 helperT cell (T(H)2) cytokines play an important role in the development of allergic airway inflammation in patients with bronchial asthma.
OBJECTIVE: To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and Gln576Arg in the IL4RA gene, -33C>T in the IL4 gene, and Gly237Glu in the FCER1B gene contribute to the development and severity of atopic bronchial asthma in Russian patients from Moscow.
METHODS: We analyzed DNA samples from 224 patients with atopic bronchial asthma and 172 healthy individuals. Genotyping was performed by primer extension followed by matrix-assisted laser desorption/ionization-time of flight mass spectrometry.
RESULTS: We observed a moderate association between the Arg/Arg genotype of Gln576Arg and protection against asthma (odds ratio [OR], 0.16; P < .012) and a strong association between the T allele and TT genotype of -33C> and atopic bronchial asthma (OR, 1.91 and 4.65, respectively; P < .0001). Carriers of the C allele had a reduced risk of asthma (OR, 0.53; P < .0001). Furthermore, we found that the TT genotype of -33C>T correlated with higher concentrations of total serum immunoglobulin E and interleukin 4 than the CC and CT genotypes.
CONCLUSION: We found an association between atopic bronchial asthma and the SNPs Gln576Arg in IL4RA and -33C>T in IL4. IL4RA and IL4 seem to be involved in the pathogenesis of asthma.
J Investig Allergol Clin Immunol. 2012;22(2):126-32.
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过敏性哮喘患者气道正五聚蛋白3（PTX3）表达：在气道平滑肌迁移和趋化因子产生中的作用
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