埃及儿童队列中的喘息和咳嗽哮喘表型:临床特征和CCR3 T51C基因多态性

M. Zedan, Mai Magdy Kera, E. Khashaba, Mona El wassefy, A. Osman
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引用次数: 0

摘要

背景:哮喘是一种异质性疾病,具有不同的特征表型。将临床哮喘表型与潜在的基因型相关联可以为开发量身定制的哮喘药物铺平道路。目的:本研究的目的是描述埃及哮喘儿童喘息和咳嗽哮喘表型的临床特征,并评估CCR3 T51C基因多态性的频率。方法:采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)对60例埃及哮喘患儿(40例喘息表型和20例咳嗽表型)和100例对照进行CCR3 T51C多态性基因型分析。ELISA法测定血清IgE水平。结果:在临床特征方面,喘息型患者相关变应性鼻炎和特应性皮炎的发生率明显高于咳嗽型患者。喘息型患者多为中度至重度哮喘,咳嗽型患者多为轻度哮喘。关于CCR3 T51C基因型的频率,TT纯合子基因型是病例和对照组中最常见的基因型。然而,两种临床表型之间没有统计学上的显著差异。结论:在我们的研究人群中,喘息性哮喘表型的特征是相关过敏性行军的频率更高,哮喘严重程度增加。然而,我们的研究结果否定了CCR3 T51C基因多态性作为区分喘息和咳嗽哮喘表型的遗传标记的价值。
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Wheezy and Cough Asthma Phenotypes in a cohort of Egyptian Children: Clinical features and CCR3 T51C Gene Polymorphism
Background: Asthma is a heterogenous disease with variable characteristic phenotypes. Correlating clinical asthma phenotypes with the underlying genotypes could pave the way for the development of tailored asthma medications. Objective: The purpose of this study was to describe the clinical features of wheezy and cough asthma phenotypes and to assess the frequency of CCR3 T51C gene polymorphism among Egyptian asthmatic children. Methods: A group of 60 Egyptian asthmatic children (40 wheezy phenotypes and 20 cough phenotypes) together with 100 controls were enrolled and analyzed for the genotypes of CCR3 T51C polymorphisms using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). Serum IgE levels were determined by the ELISA technique. Results: Regarding clinical characteristics, associated allergic rhinitis and atopic dermatitis were found to be significantly higher among the wheezy phenotype compared with the cough phenotype. Also, most of the patients with the wheezy phenotype had moderate to severe asthma, while most of the patients with the cough phenotype had mild asthma. Regarding the frequency of CCR3 T51C genotypes, the TT homozygote genotype was the most frequent genotype among cases and controls. However, no statistically significant differences were found between the two clinical phenotypes. Conclusion: In our studied population, the wheezy asthma phenotype was characterized by a higher frequency of associated allergic march and increased asthma severity. Yet, our results deny the value of CCR3 T51C genetic polymorphism as a genetic marker for differentiating between wheezy and cough asthma phenotypes.
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